SNP Links for Protein (Select 767935827) - SNP

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Links from Protein

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Select item 14888719461.

rs1488871946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:80558885 (GRCh38)
5:79854704 (GRCh37)
Canonical SPDI:: NC_000005.10:80558884:G:C
Gene:: ANKRD34B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.80558885G>C, NC_000005.9:g.79854704G>C, XM_006714599.4:c.1135C>G, XM_006714599.3:c.1135C>G, XM_006714599.2:c.1135C>G, XM_006714599.1:c.1135C>G, NM_001004441.3:c.1135C>G, NM_001004441.2:c.1135C>G, XM_011543366.3:c.1135C>G, XM_011543366.2:c.1135C>G, XM_011543366.1:c.1135C>G, XM_011543369.2:c.1135C>G, XM_011543369.1:c.1135C>G, XM_047417141.1:c.1135C>G, XM_047417143.1:c.1135C>G, XM_047417142.1:c.1135C>G, XP_006714662.1:p.Leu379Val, NP_001004441.2:p.Leu379Val, XP_011541668.1:p.Leu379Val, XP_011541671.1:p.Leu379Val, XP_047273097.1:p.Leu379Val, XP_047273099.1:p.Leu379Val, XP_047273098.1:p.Leu379Val

Select item 14878897052.

rs1487889705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:80559254 (GRCh38)
5:79855073 (GRCh37)
Canonical SPDI:: NC_000005.10:80559253:T:C
Gene:: ANKRD34B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.80559254T>C, NC_000005.9:g.79855073T>C, XM_006714599.4:c.766A>G, XM_006714599.3:c.766A>G, XM_006714599.2:c.766A>G, XM_006714599.1:c.766A>G, NM_001004441.3:c.766A>G, NM_001004441.2:c.766A>G, XM_011543366.3:c.766A>G, XM_011543366.2:c.766A>G, XM_011543366.1:c.766A>G, XM_011543369.2:c.766A>G, XM_011543369.1:c.766A>G, XM_047417141.1:c.766A>G, XM_047417143.1:c.766A>G, XM_047417142.1:c.766A>G, XP_006714662.1:p.Met256Val, NP_001004441.2:p.Met256Val, XP_011541668.1:p.Met256Val, XP_011541671.1:p.Met256Val, XP_047273097.1:p.Met256Val, XP_047273099.1:p.Met256Val, XP_047273098.1:p.Met256Val

Select item 14856448483.

rs1485644848 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:80558973 (GRCh38)
5:79854792 (GRCh37)
Canonical SPDI:: NC_000005.10:80558972:T:C
Gene:: ANKRD34B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.80558973T>C, NC_000005.9:g.79854792T>C, XM_006714599.4:c.1047A>G, XM_006714599.3:c.1047A>G, XM_006714599.2:c.1047A>G, XM_006714599.1:c.1047A>G, NM_001004441.3:c.1047A>G, NM_001004441.2:c.1047A>G, XM_011543366.3:c.1047A>G, XM_011543366.2:c.1047A>G, XM_011543366.1:c.1047A>G, XM_011543369.2:c.1047A>G, XM_011543369.1:c.1047A>G, XM_047417141.1:c.1047A>G, XM_047417143.1:c.1047A>G, XM_047417142.1:c.1047A>G

Select item 14792566274.

rs1479256627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:80558723 (GRCh38)
5:79854542 (GRCh37)
Canonical SPDI:: NC_000005.10:80558722:C:A
Gene:: ANKRD34B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.80558723C>A, NC_000005.9:g.79854542C>A, XM_006714599.4:c.1297G>T, XM_006714599.3:c.1297G>T, XM_006714599.2:c.1297G>T, XM_006714599.1:c.1297G>T, NM_001004441.3:c.1297G>T, NM_001004441.2:c.1297G>T, XM_011543366.3:c.1297G>T, XM_011543366.2:c.1297G>T, XM_011543366.1:c.1297G>T, XM_011543369.2:c.1297G>T, XM_011543369.1:c.1297G>T, XM_047417141.1:c.1297G>T, XM_047417143.1:c.1297G>T, XM_047417142.1:c.1297G>T, XP_006714662.1:p.Gly433Ter, NP_001004441.2:p.Gly433Ter, XP_011541668.1:p.Gly433Ter, XP_011541671.1:p.Gly433Ter, XP_047273097.1:p.Gly433Ter, XP_047273099.1:p.Gly433Ter, XP_047273098.1:p.Gly433Ter

Select item 14791731455.

rs1479173145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:80558719 (GRCh38)
5:79854538 (GRCh37)
Canonical SPDI:: NC_000005.10:80558718:G:A
Gene:: ANKRD34B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.80558719G>A, NC_000005.9:g.79854538G>A, XM_006714599.4:c.1301C>T, XM_006714599.3:c.1301C>T, XM_006714599.2:c.1301C>T, XM_006714599.1:c.1301C>T, NM_001004441.3:c.1301C>T, NM_001004441.2:c.1301C>T, XM_011543366.3:c.1301C>T, XM_011543366.2:c.1301C>T, XM_011543366.1:c.1301C>T, XM_011543369.2:c.1301C>T, XM_011543369.1:c.1301C>T, XM_047417141.1:c.1301C>T, XM_047417143.1:c.1301C>T, XM_047417142.1:c.1301C>T, XP_006714662.1:p.Ala434Val, NP_001004441.2:p.Ala434Val, XP_011541668.1:p.Ala434Val, XP_011541671.1:p.Ala434Val, XP_047273097.1:p.Ala434Val, XP_047273099.1:p.Ala434Val, XP_047273098.1:p.Ala434Val

Select item 14783414716.

rs1478341471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:80559658 (GRCh38)
5:79855477 (GRCh37)
Canonical SPDI:: NC_000005.10:80559657:G:T
Gene:: ANKRD34B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.80559658G>T, NC_000005.9:g.79855477G>T, XM_006714599.4:c.362C>A, XM_006714599.3:c.362C>A, XM_006714599.2:c.362C>A, XM_006714599.1:c.362C>A, NM_001004441.3:c.362C>A, NM_001004441.2:c.362C>A, XM_011543366.3:c.362C>A, XM_011543366.2:c.362C>A, XM_011543366.1:c.362C>A, XM_011543369.2:c.362C>A, XM_011543369.1:c.362C>A, XM_047417141.1:c.362C>A, XM_047417143.1:c.362C>A, XM_047417142.1:c.362C>A, XP_006714662.1:p.Ala121Asp, NP_001004441.2:p.Ala121Asp, XP_011541668.1:p.Ala121Asp, XP_011541671.1:p.Ala121Asp, XP_047273097.1:p.Ala121Asp, XP_047273099.1:p.Ala121Asp, XP_047273098.1:p.Ala121Asp

Select item 14750678107.

rs1475067810 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:80558899 (GRCh38)
5:79854718 (GRCh37)
Canonical SPDI:: NC_000005.10:80558898:T:G
Gene:: ANKRD34B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.80558899T>G, NC_000005.9:g.79854718T>G, XM_006714599.4:c.1121A>C, XM_006714599.3:c.1121A>C, XM_006714599.2:c.1121A>C, XM_006714599.1:c.1121A>C, NM_001004441.3:c.1121A>C, NM_001004441.2:c.1121A>C, XM_011543366.3:c.1121A>C, XM_011543366.2:c.1121A>C, XM_011543366.1:c.1121A>C, XM_011543369.2:c.1121A>C, XM_011543369.1:c.1121A>C, XM_047417141.1:c.1121A>C, XM_047417143.1:c.1121A>C, XM_047417142.1:c.1121A>C, XP_006714662.1:p.Gln374Pro, NP_001004441.2:p.Gln374Pro, XP_011541668.1:p.Gln374Pro, XP_011541671.1:p.Gln374Pro, XP_047273097.1:p.Gln374Pro, XP_047273099.1:p.Gln374Pro, XP_047273098.1:p.Gln374Pro

Select item 14745885148.

rs1474588514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:80559647 (GRCh38)
5:79855466 (GRCh37)
Canonical SPDI:: NC_000005.10:80559646:C:T
Gene:: ANKRD34B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.80559647C>T, NC_000005.9:g.79855466C>T, XM_006714599.4:c.373G>A, XM_006714599.3:c.373G>A, XM_006714599.2:c.373G>A, XM_006714599.1:c.373G>A, NM_001004441.3:c.373G>A, NM_001004441.2:c.373G>A, XM_011543366.3:c.373G>A, XM_011543366.2:c.373G>A, XM_011543366.1:c.373G>A, XM_011543369.2:c.373G>A, XM_011543369.1:c.373G>A, XM_047417141.1:c.373G>A, XM_047417143.1:c.373G>A, XM_047417142.1:c.373G>A, XP_006714662.1:p.Ala125Thr, NP_001004441.2:p.Ala125Thr, XP_011541668.1:p.Ala125Thr, XP_011541671.1:p.Ala125Thr, XP_047273097.1:p.Ala125Thr, XP_047273099.1:p.Ala125Thr, XP_047273098.1:p.Ala125Thr

Select item 14677701959.

rs1467770195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:80558713 (GRCh38)
5:79854532 (GRCh37)
Canonical SPDI:: NC_000005.10:80558712:G:C
Gene:: ANKRD34B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.80558713G>C, NC_000005.9:g.79854532G>C, XM_006714599.4:c.1307C>G, XM_006714599.3:c.1307C>G, XM_006714599.2:c.1307C>G, XM_006714599.1:c.1307C>G, NM_001004441.3:c.1307C>G, NM_001004441.2:c.1307C>G, XM_011543366.3:c.1307C>G, XM_011543366.2:c.1307C>G, XM_011543366.1:c.1307C>G, XM_011543369.2:c.1307C>G, XM_011543369.1:c.1307C>G, XM_047417141.1:c.1307C>G, XM_047417143.1:c.1307C>G, XM_047417142.1:c.1307C>G, XP_006714662.1:p.Pro436Arg, NP_001004441.2:p.Pro436Arg, XP_011541668.1:p.Pro436Arg, XP_011541671.1:p.Pro436Arg, XP_047273097.1:p.Pro436Arg, XP_047273099.1:p.Pro436Arg, XP_047273098.1:p.Pro436Arg

Select item 146652083410.

rs1466520834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:80559581 (GRCh38)
5:79855400 (GRCh37)
Canonical SPDI:: NC_000005.10:80559580:C:T
Gene:: ANKRD34B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.80559581C>T, NC_000005.9:g.79855400C>T, XM_006714599.4:c.439G>A, XM_006714599.3:c.439G>A, XM_006714599.2:c.439G>A, XM_006714599.1:c.439G>A, NM_001004441.3:c.439G>A, NM_001004441.2:c.439G>A, XM_011543366.3:c.439G>A, XM_011543366.2:c.439G>A, XM_011543366.1:c.439G>A, XM_011543369.2:c.439G>A, XM_011543369.1:c.439G>A, XM_047417141.1:c.439G>A, XM_047417143.1:c.439G>A, XM_047417142.1:c.439G>A, XP_006714662.1:p.Glu147Lys, NP_001004441.2:p.Glu147Lys, XP_011541668.1:p.Glu147Lys, XP_011541671.1:p.Glu147Lys, XP_047273097.1:p.Glu147Lys, XP_047273099.1:p.Glu147Lys, XP_047273098.1:p.Glu147Lys

Select item 146634183311.

rs1466341833 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:80559486 (GRCh38)
5:79855305 (GRCh37)
Canonical SPDI:: NC_000005.10:80559485:A:G
Gene:: ANKRD34B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.80559486A>G, NC_000005.9:g.79855305A>G, XM_006714599.4:c.534T>C, XM_006714599.3:c.534T>C, XM_006714599.2:c.534T>C, XM_006714599.1:c.534T>C, NM_001004441.3:c.534T>C, NM_001004441.2:c.534T>C, XM_011543366.3:c.534T>C, XM_011543366.2:c.534T>C, XM_011543366.1:c.534T>C, XM_011543369.2:c.534T>C, XM_011543369.1:c.534T>C, XM_047417141.1:c.534T>C, XM_047417143.1:c.534T>C, XM_047417142.1:c.534T>C

Select item 146586055312.

rs1465860553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:80559261 (GRCh38)
5:79855080 (GRCh37)
Canonical SPDI:: NC_000005.10:80559260:T:C
Gene:: ANKRD34B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.80559261T>C, NC_000005.9:g.79855080T>C, XM_006714599.4:c.759A>G, XM_006714599.3:c.759A>G, XM_006714599.2:c.759A>G, XM_006714599.1:c.759A>G, NM_001004441.3:c.759A>G, NM_001004441.2:c.759A>G, XM_011543366.3:c.759A>G, XM_011543366.2:c.759A>G, XM_011543366.1:c.759A>G, XM_011543369.2:c.759A>G, XM_011543369.1:c.759A>G, XM_047417141.1:c.759A>G, XM_047417143.1:c.759A>G, XM_047417142.1:c.759A>G

Select item 146067009913.

rs1460670099 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:80558995 (GRCh38)
5:79854814 (GRCh37)
Canonical SPDI:: NC_000005.10:80558994:T:C
Gene:: ANKRD34B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.80558995T>C, NC_000005.9:g.79854814T>C, XM_006714599.4:c.1025A>G, XM_006714599.3:c.1025A>G, XM_006714599.2:c.1025A>G, XM_006714599.1:c.1025A>G, NM_001004441.3:c.1025A>G, NM_001004441.2:c.1025A>G, XM_011543366.3:c.1025A>G, XM_011543366.2:c.1025A>G, XM_011543366.1:c.1025A>G, XM_011543369.2:c.1025A>G, XM_011543369.1:c.1025A>G, XM_047417141.1:c.1025A>G, XM_047417143.1:c.1025A>G, XM_047417142.1:c.1025A>G, XP_006714662.1:p.Gln342Arg, NP_001004441.2:p.Gln342Arg, XP_011541668.1:p.Gln342Arg, XP_011541671.1:p.Gln342Arg, XP_047273097.1:p.Gln342Arg, XP_047273099.1:p.Gln342Arg, XP_047273098.1:p.Gln342Arg

Select item 145927379714.

rs1459273797 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:80559080 (GRCh38)
5:79854899 (GRCh37)
Canonical SPDI:: NC_000005.10:80559079:A:G
Gene:: ANKRD34B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.80559080A>G, NC_000005.9:g.79854899A>G, XM_006714599.4:c.940T>C, XM_006714599.3:c.940T>C, XM_006714599.2:c.940T>C, XM_006714599.1:c.940T>C, NM_001004441.3:c.940T>C, NM_001004441.2:c.940T>C, XM_011543366.3:c.940T>C, XM_011543366.2:c.940T>C, XM_011543366.1:c.940T>C, XM_011543369.2:c.940T>C, XM_011543369.1:c.940T>C, XM_047417141.1:c.940T>C, XM_047417143.1:c.940T>C, XM_047417142.1:c.940T>C, XP_006714662.1:p.Ser314Pro, NP_001004441.2:p.Ser314Pro, XP_011541668.1:p.Ser314Pro, XP_011541671.1:p.Ser314Pro, XP_047273097.1:p.Ser314Pro, XP_047273099.1:p.Ser314Pro, XP_047273098.1:p.Ser314Pro

Select item 145912197315.

rs1459121973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:80559920 (GRCh38)
5:79855739 (GRCh37)
Canonical SPDI:: NC_000005.10:80559919:C:T
Gene:: ANKRD34B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.80559920C>T, NC_000005.9:g.79855739C>T, XM_006714599.4:c.100G>A, XM_006714599.3:c.100G>A, XM_006714599.2:c.100G>A, XM_006714599.1:c.100G>A, NM_001004441.3:c.100G>A, NM_001004441.2:c.100G>A, XM_011543366.3:c.100G>A, XM_011543366.2:c.100G>A, XM_011543366.1:c.100G>A, XM_011543369.2:c.100G>A, XM_011543369.1:c.100G>A, XM_047417141.1:c.100G>A, XM_047417143.1:c.100G>A, XM_047417142.1:c.100G>A, XP_006714662.1:p.Ala34Thr, NP_001004441.2:p.Ala34Thr, XP_011541668.1:p.Ala34Thr, XP_011541671.1:p.Ala34Thr, XP_047273097.1:p.Ala34Thr, XP_047273099.1:p.Ala34Thr, XP_047273098.1:p.Ala34Thr

Select item 145850915216.

rs1458509152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:80559879 (GRCh38)
5:79855698 (GRCh37)
Canonical SPDI:: NC_000005.10:80559878:T:A
Gene:: ANKRD34B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.80559879T>A, NC_000005.9:g.79855698T>A, XM_006714599.4:c.141A>T, XM_006714599.3:c.141A>T, XM_006714599.2:c.141A>T, XM_006714599.1:c.141A>T, NM_001004441.3:c.141A>T, NM_001004441.2:c.141A>T, XM_011543366.3:c.141A>T, XM_011543366.2:c.141A>T, XM_011543366.1:c.141A>T, XM_011543369.2:c.141A>T, XM_011543369.1:c.141A>T, XM_047417141.1:c.141A>T, XM_047417143.1:c.141A>T, XM_047417142.1:c.141A>T, XP_006714662.1:p.Leu47Phe, NP_001004441.2:p.Leu47Phe, XP_011541668.1:p.Leu47Phe, XP_011541671.1:p.Leu47Phe, XP_047273097.1:p.Leu47Phe, XP_047273099.1:p.Leu47Phe, XP_047273098.1:p.Leu47Phe

Select item 145184380417.

rs1451843804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:80558807 (GRCh38)
5:79854626 (GRCh37)
Canonical SPDI:: NC_000005.10:80558806:A:G
Gene:: ANKRD34B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000005.10:g.80558807A>G, NC_000005.9:g.79854626A>G, XM_006714599.4:c.1213T>C, XM_006714599.3:c.1213T>C, XM_006714599.2:c.1213T>C, XM_006714599.1:c.1213T>C, NM_001004441.3:c.1213T>C, NM_001004441.2:c.1213T>C, XM_011543366.3:c.1213T>C, XM_011543366.2:c.1213T>C, XM_011543366.1:c.1213T>C, XM_011543369.2:c.1213T>C, XM_011543369.1:c.1213T>C, XM_047417141.1:c.1213T>C, XM_047417143.1:c.1213T>C, XM_047417142.1:c.1213T>C, XP_006714662.1:p.Ser405Pro, NP_001004441.2:p.Ser405Pro, XP_011541668.1:p.Ser405Pro, XP_011541671.1:p.Ser405Pro, XP_047273097.1:p.Ser405Pro, XP_047273099.1:p.Ser405Pro, XP_047273098.1:p.Ser405Pro

Select item 145167276618.

rs1451672766 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:80559676 (GRCh38)
5:79855495 (GRCh37)
Canonical SPDI:: NC_000005.10:80559675:T:C
Gene:: ANKRD34B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.80559676T>C, NC_000005.9:g.79855495T>C, XM_006714599.4:c.344A>G, XM_006714599.3:c.344A>G, XM_006714599.2:c.344A>G, XM_006714599.1:c.344A>G, NM_001004441.3:c.344A>G, NM_001004441.2:c.344A>G, XM_011543366.3:c.344A>G, XM_011543366.2:c.344A>G, XM_011543366.1:c.344A>G, XM_011543369.2:c.344A>G, XM_011543369.1:c.344A>G, XM_047417141.1:c.344A>G, XM_047417143.1:c.344A>G, XM_047417142.1:c.344A>G, XP_006714662.1:p.Asp115Gly, NP_001004441.2:p.Asp115Gly, XP_011541668.1:p.Asp115Gly, XP_011541671.1:p.Asp115Gly, XP_047273097.1:p.Asp115Gly, XP_047273099.1:p.Asp115Gly, XP_047273098.1:p.Asp115Gly

Select item 145129619219.

rs1451296192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:80559294 (GRCh38)
5:79855113 (GRCh37)
Canonical SPDI:: NC_000005.10:80559293:G:A
Gene:: ANKRD34B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.80559294G>A, NC_000005.9:g.79855113G>A, XM_006714599.4:c.726C>T, XM_006714599.3:c.726C>T, XM_006714599.2:c.726C>T, XM_006714599.1:c.726C>T, NM_001004441.3:c.726C>T, NM_001004441.2:c.726C>T, XM_011543366.3:c.726C>T, XM_011543366.2:c.726C>T, XM_011543366.1:c.726C>T, XM_011543369.2:c.726C>T, XM_011543369.1:c.726C>T, XM_047417141.1:c.726C>T, XM_047417143.1:c.726C>T, XM_047417142.1:c.726C>T

Select item 144874726420.

rs1448747264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:80559762 (GRCh38)
5:79855581 (GRCh37)
Canonical SPDI:: NC_000005.10:80559761:C:T
Gene:: ANKRD34B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.80559762C>T, NC_000005.9:g.79855581C>T, XM_006714599.4:c.258G>A, XM_006714599.3:c.258G>A, XM_006714599.2:c.258G>A, XM_006714599.1:c.258G>A, NM_001004441.3:c.258G>A, NM_001004441.2:c.258G>A, XM_011543366.3:c.258G>A, XM_011543366.2:c.258G>A, XM_011543366.1:c.258G>A, XM_011543369.2:c.258G>A, XM_011543369.1:c.258G>A, XM_047417141.1:c.258G>A, XM_047417143.1:c.258G>A, XM_047417142.1:c.258G>A

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