SNP Links for Protein (Select 13376243) - SNP

Select item 14897650461.

rs1489765046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119838682 (GRCh38)
10:121598194 (GRCh37)
Canonical SPDI:: NC_000010.11:119838681:T:C
Gene:: MCMBP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119838682T>C, NC_000010.10:g.121598194T>C, XM_005270157.5:c.1267A>G, XM_005270157.4:c.1267A>G, XM_005270157.3:c.1267A>G, XM_005270157.2:c.1267A>G, XM_005270157.1:c.1267A>G, NM_024834.4:c.1267A>G, NM_024834.3:c.1267A>G, NM_001256378.2:c.1261A>G, NM_001256378.1:c.1261A>G, XM_011540170.2:c.1057A>G, XM_011540170.1:c.1057A>G, XM_017016663.2:c.1261A>G, XM_017016663.1:c.1261A>G, NM_001256379.2:c.742A>G, NM_001256379.1:c.742A>G, XP_005270214.1:p.Thr423Ala, NP_079110.1:p.Thr423Ala, NP_001243307.1:p.Thr421Ala, XP_011538472.1:p.Thr353Ala, XP_016872152.1:p.Thr421Ala, NP_001243308.1:p.Thr248Ala

Select item 14887091862.

rs1488709186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:119843385 (GRCh38)
10:121602897 (GRCh37)
Canonical SPDI:: NC_000010.11:119843384:G:A,NC_000010.11:119843384:G:T
Gene:: MCMBP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.119843385G>A, NC_000010.11:g.119843385G>T, NC_000010.10:g.121602897G>A, NC_000010.10:g.121602897G>T, XM_005270157.5:c.869C>T, XM_005270157.5:c.869C>A, XM_005270157.4:c.869C>T, XM_005270157.4:c.869C>A, XM_005270157.3:c.869C>T, XM_005270157.3:c.869C>A, XM_005270157.2:c.869C>T, XM_005270157.2:c.869C>A, XM_005270157.1:c.869C>T, XM_005270157.1:c.869C>A, NM_024834.4:c.869C>T, NM_024834.4:c.869C>A, NM_024834.3:c.869C>T, NM_024834.3:c.869C>A, NM_001256378.2:c.869C>T, NM_001256378.2:c.869C>A, NM_001256378.1:c.869C>T, NM_001256378.1:c.869C>A, XM_011540170.2:c.659C>T, XM_011540170.2:c.659C>A, XM_011540170.1:c.659C>T, XM_011540170.1:c.659C>A, XM_017016663.2:c.869C>T, XM_017016663.2:c.869C>A, XM_017016663.1:c.869C>T, XM_017016663.1:c.869C>A, NM_001256379.2:c.350C>T, NM_001256379.2:c.350C>A, NM_001256379.1:c.350C>T, NM_001256379.1:c.350C>A, XP_005270214.1:p.Thr290Ile, XP_005270214.1:p.Thr290Lys, NP_079110.1:p.Thr290Ile, NP_079110.1:p.Thr290Lys, NP_001243307.1:p.Thr290Ile, NP_001243307.1:p.Thr290Lys, XP_011538472.1:p.Thr220Ile, XP_011538472.1:p.Thr220Lys, XP_016872152.1:p.Thr290Ile, XP_016872152.1:p.Thr290Lys, NP_001243308.1:p.Thr117Ile, NP_001243308.1:p.Thr117Lys

Select item 14877425453.

rs1487742545 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119840928 (GRCh38)
10:121600440 (GRCh37)
Canonical SPDI:: NC_000010.11:119840927:T:C
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.119840928T>C, NC_000010.10:g.121600440T>C, XM_005270157.5:c.1163A>G, XM_005270157.4:c.1163A>G, XM_005270157.3:c.1163A>G, XM_005270157.2:c.1163A>G, XM_005270157.1:c.1163A>G, NM_024834.4:c.1163A>G, NM_024834.3:c.1163A>G, NM_001256378.2:c.1157A>G, NM_001256378.1:c.1157A>G, XM_011540170.2:c.953A>G, XM_011540170.1:c.953A>G, XM_017016663.2:c.1157A>G, XM_017016663.1:c.1157A>G, NM_001256379.2:c.638A>G, NM_001256379.1:c.638A>G, XP_005270214.1:p.Lys388Arg, NP_079110.1:p.Lys388Arg, NP_001243307.1:p.Lys386Arg, XP_011538472.1:p.Lys318Arg, XP_016872152.1:p.Lys386Arg, NP_001243308.1:p.Lys213Arg

Select item 14865901994.

rs1486590199 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119831542 (GRCh38)
10:121591054 (GRCh37)
Canonical SPDI:: NC_000010.11:119831541:T:C
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.119831542T>C, NC_000010.10:g.121591054T>C, NG_044999.2:g.132148T>C, XM_005270157.5:c.1696A>G, XM_005270157.4:c.1696A>G, XM_005270157.3:c.1696A>G, XM_005270157.2:c.1696A>G, XM_005270157.1:c.1696A>G, NM_024834.4:c.1861A>G, NM_024834.3:c.1861A>G, NM_001256378.2:c.1855A>G, NM_001256378.1:c.1855A>G, XM_011540170.2:c.1651A>G, XM_011540170.1:c.1651A>G, XM_017016663.2:c.1690A>G, XM_017016663.1:c.1690A>G, NM_001256379.2:c.1336A>G, NM_001256379.1:c.1336A>G, XP_005270214.1:p.Lys566Glu, NP_079110.1:p.Lys621Glu, NP_001243307.1:p.Lys619Glu, XP_011538472.1:p.Lys551Glu, XP_016872152.1:p.Lys564Glu, NP_001243308.1:p.Lys446Glu

Select item 14845067055.

rs1484506705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119849516 (GRCh38)
10:121609028 (GRCh37)
Canonical SPDI:: NC_000010.11:119849515:G:A
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000010.11:g.119849516G>A, NC_000010.10:g.121609028G>A, XM_005270157.5:c.635C>T, XM_005270157.4:c.635C>T, XM_005270157.3:c.635C>T, XM_005270157.2:c.635C>T, XM_005270157.1:c.635C>T, NM_024834.4:c.635C>T, NM_024834.3:c.635C>T, NM_001256378.2:c.635C>T, NM_001256378.1:c.635C>T, XM_011540170.2:c.425C>T, XM_011540170.1:c.425C>T, XM_017016663.2:c.635C>T, XM_017016663.1:c.635C>T, NM_001256379.2:c.116C>T, NM_001256379.1:c.116C>T, XP_005270214.1:p.Thr212Ile, NP_079110.1:p.Thr212Ile, NP_001243307.1:p.Thr212Ile, XP_011538472.1:p.Thr142Ile, XP_016872152.1:p.Thr212Ile, NP_001243308.1:p.Thr39Ile

Select item 14839806056.

rs1483980605 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119840956 (GRCh38)
10:121600468 (GRCh37)
Canonical SPDI:: NC_000010.11:119840955:T:C
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.119840956T>C, NC_000010.10:g.121600468T>C, XM_005270157.5:c.1135A>G, XM_005270157.4:c.1135A>G, XM_005270157.3:c.1135A>G, XM_005270157.2:c.1135A>G, XM_005270157.1:c.1135A>G, NM_024834.4:c.1135A>G, NM_024834.3:c.1135A>G, NM_001256378.2:c.1129A>G, NM_001256378.1:c.1129A>G, XM_011540170.2:c.925A>G, XM_011540170.1:c.925A>G, XM_017016663.2:c.1129A>G, XM_017016663.1:c.1129A>G, NM_001256379.2:c.610A>G, NM_001256379.1:c.610A>G, XP_005270214.1:p.Thr379Ala, NP_079110.1:p.Thr379Ala, NP_001243307.1:p.Thr377Ala, XP_011538472.1:p.Thr309Ala, XP_016872152.1:p.Thr377Ala, NP_001243308.1:p.Thr204Ala

Select item 14807011357.

rs1480701135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119857389 (GRCh38)
10:121616901 (GRCh37)
Canonical SPDI:: NC_000010.11:119857388:T:C
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.119857389T>C, NC_000010.10:g.121616901T>C, XM_005270157.5:c.378A>G, XM_005270157.4:c.378A>G, XM_005270157.3:c.378A>G, XM_005270157.2:c.378A>G, XM_005270157.1:c.378A>G, NM_024834.4:c.378A>G, NM_024834.3:c.378A>G, NM_001256378.2:c.378A>G, NM_001256378.1:c.378A>G, XM_011540170.2:c.168A>G, XM_011540170.1:c.168A>G, XM_017016663.2:c.378A>G, XM_017016663.1:c.378A>G, NM_001256379.2:c.-111A>G, NM_001256379.1:c.-111A>G

Select item 14793678578.

rs1479367857 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119838595 (GRCh38)
10:121598107 (GRCh37)
Canonical SPDI:: NC_000010.11:119838594:T:C
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119838595T>C, NC_000010.10:g.121598107T>C, XM_005270157.5:c.1354A>G, XM_005270157.4:c.1354A>G, XM_005270157.3:c.1354A>G, XM_005270157.2:c.1354A>G, XM_005270157.1:c.1354A>G, NM_024834.4:c.1354A>G, NM_024834.3:c.1354A>G, NM_001256378.2:c.1348A>G, NM_001256378.1:c.1348A>G, XM_011540170.2:c.1144A>G, XM_011540170.1:c.1144A>G, XM_017016663.2:c.1348A>G, XM_017016663.1:c.1348A>G, NM_001256379.2:c.829A>G, NM_001256379.1:c.829A>G, XP_005270214.1:p.Ser452Gly, NP_079110.1:p.Ser452Gly, NP_001243307.1:p.Ser450Gly, XP_011538472.1:p.Ser382Gly, XP_016872152.1:p.Ser450Gly, NP_001243308.1:p.Ser277Gly

Select item 14701370519.

rs1470137051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:119832043 (GRCh38)
10:121591555 (GRCh37)
Canonical SPDI:: NC_000010.11:119832042:C:G
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119832043C>G, NC_000010.10:g.121591555C>G, NG_044999.2:g.132649C>G, XM_005270157.5:c.1606G>C, XM_005270157.4:c.1606G>C, XM_005270157.3:c.1606G>C, XM_005270157.2:c.1606G>C, XM_005270157.1:c.1606G>C, NM_024834.4:c.1771G>C, NM_024834.3:c.1771G>C, NM_001256378.2:c.1765G>C, NM_001256378.1:c.1765G>C, XM_011540170.2:c.1561G>C, XM_011540170.1:c.1561G>C, XM_017016663.2:c.1600G>C, XM_017016663.1:c.1600G>C, NM_001256379.2:c.1246G>C, NM_001256379.1:c.1246G>C, XP_005270214.1:p.Asp536His, NP_079110.1:p.Asp591His, NP_001243307.1:p.Asp589His, XP_011538472.1:p.Asp521His, XP_016872152.1:p.Asp534His, NP_001243308.1:p.Asp416His

Select item 146937548310.

rs1469375483 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:119842567 (GRCh38)
10:121602079 (GRCh37)
Canonical SPDI:: NC_000010.11:119842566:A:C
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.119842567A>C, NC_000010.10:g.121602079A>C, XM_005270157.5:c.1035T>G, XM_005270157.4:c.1035T>G, XM_005270157.3:c.1035T>G, XM_005270157.2:c.1035T>G, XM_005270157.1:c.1035T>G, NM_024834.4:c.1035T>G, NM_024834.3:c.1035T>G, NM_001256378.2:c.1029T>G, NM_001256378.1:c.1029T>G, XM_011540170.2:c.825T>G, XM_011540170.1:c.825T>G, XM_017016663.2:c.1029T>G, XM_017016663.1:c.1029T>G, NM_001256379.2:c.510T>G, NM_001256379.1:c.510T>G

Select item 146931605311.

rs1469316053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119840887 (GRCh38)
10:121600399 (GRCh37)
Canonical SPDI:: NC_000010.11:119840886:A:G
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119840887A>G, NC_000010.10:g.121600399A>G, XM_005270157.5:c.1204T>C, XM_005270157.4:c.1204T>C, XM_005270157.3:c.1204T>C, XM_005270157.2:c.1204T>C, XM_005270157.1:c.1204T>C, NM_024834.4:c.1204T>C, NM_024834.3:c.1204T>C, NM_001256378.2:c.1198T>C, NM_001256378.1:c.1198T>C, XM_011540170.2:c.994T>C, XM_011540170.1:c.994T>C, XM_017016663.2:c.1198T>C, XM_017016663.1:c.1198T>C, NM_001256379.2:c.679T>C, NM_001256379.1:c.679T>C, XP_005270214.1:p.Phe402Leu, NP_079110.1:p.Phe402Leu, NP_001243307.1:p.Phe400Leu, XP_011538472.1:p.Phe332Leu, XP_016872152.1:p.Phe400Leu, NP_001243308.1:p.Phe227Leu

Select item 146901779012.

rs1469017790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:119859809 (GRCh38)
10:121619321 (GRCh37)
Canonical SPDI:: NC_000010.11:119859808:G:C
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119859809G>C, NC_000010.10:g.121619321G>C, XM_005270157.5:c.134C>G, XM_005270157.4:c.134C>G, XM_005270157.3:c.134C>G, XM_005270157.2:c.134C>G, XM_005270157.1:c.134C>G, NM_024834.4:c.134C>G, NM_024834.3:c.134C>G, NM_001256378.2:c.134C>G, NM_001256378.1:c.134C>G, XM_011540170.2:c.-77C>G, XM_011540170.1:c.-77C>G, XM_017016663.2:c.134C>G, XM_017016663.1:c.134C>G, NM_001256379.2:c.-355C>G, NM_001256379.1:c.-355C>G, XP_005270214.1:p.Ala45Gly, NP_079110.1:p.Ala45Gly, NP_001243307.1:p.Ala45Gly, XP_016872152.1:p.Ala45Gly

Select item 146855719713.

rs1468557197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:119842570 (GRCh38)
10:121602082 (GRCh37)
Canonical SPDI:: NC_000010.11:119842569:C:G,NC_000010.11:119842569:C:T
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000010.11:g.119842570C>G, NC_000010.11:g.119842570C>T, NC_000010.10:g.121602082C>G, NC_000010.10:g.121602082C>T, XM_005270157.5:c.1032G>C, XM_005270157.5:c.1032G>A, XM_005270157.4:c.1032G>C, XM_005270157.4:c.1032G>A, XM_005270157.3:c.1032G>C, XM_005270157.3:c.1032G>A, XM_005270157.2:c.1032G>C, XM_005270157.2:c.1032G>A, XM_005270157.1:c.1032G>C, XM_005270157.1:c.1032G>A, NM_024834.4:c.1032G>C, NM_024834.4:c.1032G>A, NM_024834.3:c.1032G>C, NM_024834.3:c.1032G>A, NM_001256378.2:c.1026G>C, NM_001256378.2:c.1026G>A, NM_001256378.1:c.1026G>C, NM_001256378.1:c.1026G>A, XM_011540170.2:c.822G>C, XM_011540170.2:c.822G>A, XM_011540170.1:c.822G>C, XM_011540170.1:c.822G>A, XM_017016663.2:c.1026G>C, XM_017016663.2:c.1026G>A, XM_017016663.1:c.1026G>C, XM_017016663.1:c.1026G>A, NM_001256379.2:c.507G>C, NM_001256379.2:c.507G>A, NM_001256379.1:c.507G>C, NM_001256379.1:c.507G>A, XP_005270214.1:p.Leu344Phe, NP_079110.1:p.Leu344Phe, NP_001243307.1:p.Leu342Phe, XP_011538472.1:p.Leu274Phe, XP_016872152.1:p.Leu342Phe, NP_001243308.1:p.Leu169Phe

Select item 146489086514.

rs1464890865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:119872542 (GRCh38)
10:121632054 (GRCh37)
Canonical SPDI:: NC_000010.11:119872541:C:G
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.119872542C>G, NC_000010.10:g.121632054C>G, XM_005270157.5:c.43G>C, XM_005270157.4:c.43G>C, XM_005270157.3:c.43G>C, XM_005270157.2:c.43G>C, XM_005270157.1:c.43G>C, NM_024834.4:c.43G>C, NM_024834.3:c.43G>C, NM_001256378.2:c.43G>C, NM_001256378.1:c.43G>C, XM_017016663.2:c.43G>C, XM_017016663.1:c.43G>C, XP_005270214.1:p.Val15Leu, NP_079110.1:p.Val15Leu, NP_001243307.1:p.Val15Leu, XP_016872152.1:p.Val15Leu

Select item 146261773015.

rs1462617730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119872575 (GRCh38)
10:121632087 (GRCh37)
Canonical SPDI:: NC_000010.11:119872574:C:T
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.119872575C>T, NC_000010.10:g.121632087C>T, XM_005270157.5:c.10G>A, XM_005270157.4:c.10G>A, XM_005270157.3:c.10G>A, XM_005270157.2:c.10G>A, XM_005270157.1:c.10G>A, NM_024834.4:c.10G>A, NM_024834.3:c.10G>A, NM_001256378.2:c.10G>A, NM_001256378.1:c.10G>A, XM_017016663.2:c.10G>A, XM_017016663.1:c.10G>A, XP_005270214.1:p.Gly4Arg, NP_079110.1:p.Gly4Arg, NP_001243307.1:p.Gly4Arg, XP_016872152.1:p.Gly4Arg

Select item 146151853716.

rs1461518537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119859849 (GRCh38)
10:121619361 (GRCh37)
Canonical SPDI:: NC_000010.11:119859848:C:T
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000010.11:g.119859849C>T, NC_000010.10:g.121619361C>T, XM_005270157.5:c.94G>A, XM_005270157.4:c.94G>A, XM_005270157.3:c.94G>A, XM_005270157.2:c.94G>A, XM_005270157.1:c.94G>A, NM_024834.4:c.94G>A, NM_024834.3:c.94G>A, NM_001256378.2:c.94G>A, NM_001256378.1:c.94G>A, XM_011540170.2:c.-117G>A, XM_011540170.1:c.-117G>A, XM_017016663.2:c.94G>A, XM_017016663.1:c.94G>A, NM_001256379.2:c.-395G>A, NM_001256379.1:c.-395G>A, XP_005270214.1:p.Val32Ile, NP_079110.1:p.Val32Ile, NP_001243307.1:p.Val32Ile, XP_016872152.1:p.Val32Ile

Select item 146029045417.

rs1460290454 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:119831564 (GRCh38)
10:121591076 (GRCh37)
Canonical SPDI:: NC_000010.11:119831563:T:C,NC_000010.11:119831563:T:G
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119831564T>C, NC_000010.11:g.119831564T>G, NC_000010.10:g.121591076T>C, NC_000010.10:g.121591076T>G, NG_044999.2:g.132170T>C, NG_044999.2:g.132170T>G, XM_005270157.5:c.1674A>G, XM_005270157.5:c.1674A>C, XM_005270157.4:c.1674A>G, XM_005270157.4:c.1674A>C, XM_005270157.3:c.1674A>G, XM_005270157.3:c.1674A>C, XM_005270157.2:c.1674A>G, XM_005270157.2:c.1674A>C, XM_005270157.1:c.1674A>G, XM_005270157.1:c.1674A>C, NM_024834.4:c.1839A>G, NM_024834.4:c.1839A>C, NM_024834.3:c.1839A>G, NM_024834.3:c.1839A>C, NM_001256378.2:c.1833A>G, NM_001256378.2:c.1833A>C, NM_001256378.1:c.1833A>G, NM_001256378.1:c.1833A>C, XM_011540170.2:c.1629A>G, XM_011540170.2:c.1629A>C, XM_011540170.1:c.1629A>G, XM_011540170.1:c.1629A>C, XM_017016663.2:c.1668A>G, XM_017016663.2:c.1668A>C, XM_017016663.1:c.1668A>G, XM_017016663.1:c.1668A>C, NM_001256379.2:c.1314A>G, NM_001256379.2:c.1314A>C, NM_001256379.1:c.1314A>G, NM_001256379.1:c.1314A>C

Select item 145817120718.

rs1458171207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119859041 (GRCh38)
10:121618553 (GRCh37)
Canonical SPDI:: NC_000010.11:119859040:A:G
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.119859041A>G, NC_000010.10:g.121618553A>G, XM_005270157.5:c.285T>C, XM_005270157.4:c.285T>C, XM_005270157.3:c.285T>C, XM_005270157.2:c.285T>C, XM_005270157.1:c.285T>C, NM_024834.4:c.285T>C, NM_024834.3:c.285T>C, NM_001256378.2:c.285T>C, NM_001256378.1:c.285T>C, XM_011540170.2:c.75T>C, XM_011540170.1:c.75T>C, XM_017016663.2:c.285T>C, XM_017016663.1:c.285T>C, NM_001256379.2:c.-204T>C, NM_001256379.1:c.-204T>C

Select item 145620764619.

rs1456207646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119835571 (GRCh38)
10:121595083 (GRCh37)
Canonical SPDI:: NC_000010.11:119835570:A:G
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.119835571A>G, NC_000010.10:g.121595083A>G, NM_024834.4:c.1682T>C, NM_024834.3:c.1682T>C, NM_001256378.2:c.1676T>C, NM_001256378.1:c.1676T>C, XM_011540170.2:c.1472T>C, XM_011540170.1:c.1472T>C, NM_001256379.2:c.1157T>C, NM_001256379.1:c.1157T>C, NP_079110.1:p.Leu561Ser, NP_001243307.1:p.Leu559Ser, XP_011538472.1:p.Leu491Ser, NP_001243308.1:p.Leu386Ser

Select item 145546295020.

rs1455462950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119835640 (GRCh38)
10:121595152 (GRCh37)
Canonical SPDI:: NC_000010.11:119835639:C:T
Gene:: MCMBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119835640C>T, NC_000010.10:g.121595152C>T, NM_024834.4:c.1613G>A, NM_024834.3:c.1613G>A, NM_001256378.2:c.1607G>A, NM_001256378.1:c.1607G>A, XM_011540170.2:c.1403G>A, XM_011540170.1:c.1403G>A, NM_001256379.2:c.1088G>A, NM_001256379.1:c.1088G>A, NP_079110.1:p.Ser538Asn, NP_001243307.1:p.Ser536Asn, XP_011538472.1:p.Ser468Asn, NP_001243308.1:p.Ser363Asn

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Result Filters

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Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 524

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