SNP Links for Protein (Select 767935804) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 598

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Select item 14893406041.

rs1489340604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:75360101 (GRCh38)
5:74655926 (GRCh37)
Canonical SPDI:: NC_000005.10:75360100:A:T
Gene:: HMGCR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.75360101A>T, NC_000005.9:g.74655926A>T, NG_011449.1:g.27934A>T, NM_000859.3:c.2574A>T, NM_000859.2:c.2574A>T, NM_001130996.2:c.2415A>T, NM_001130996.1:c.2415A>T, NM_001364187.1:c.2574A>T, XM_011543358.2:c.2574A>T, XM_011543358.1:c.2574A>T, XM_011543357.2:c.2634A>T, XM_011543357.1:c.2634A>T, XM_011543359.2:c.2475A>T, XM_011543359.1:c.2475A>T

Select item 14885417642.

rs1488541764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:75347301 (GRCh38)
5:74643126 (GRCh37)
Canonical SPDI:: NC_000005.10:75347300:C:A
Gene:: HMGCR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.75347301C>A, NC_000005.9:g.74643126C>A, NG_011449.1:g.15134C>A, NM_000859.3:c.548C>A, NM_000859.2:c.548C>A, NM_001130996.2:c.548C>A, NM_001130996.1:c.548C>A, NM_001364187.1:c.548C>A, XM_011543358.2:c.548C>A, XM_011543358.1:c.548C>A, XM_011543357.2:c.608C>A, XM_011543357.1:c.608C>A, XM_011543359.2:c.608C>A, XM_011543359.1:c.608C>A, NP_000850.1:p.Thr183Asn, NP_001124468.1:p.Thr183Asn, NP_001351116.1:p.Thr183Asn, XP_011541660.1:p.Thr183Asn, XP_011541659.1:p.Thr203Asn, XP_011541661.1:p.Thr203Asn

Select item 14884904983.

rs1488490498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:75351237 (GRCh38)
5:74647062 (GRCh37)
Canonical SPDI:: NC_000005.10:75351236:C:T
Gene:: HMGCR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.75351237C>T, NC_000005.9:g.74647062C>T, NG_011449.1:g.19070C>T, NM_000859.3:c.1111C>T, NM_000859.2:c.1111C>T, NM_001130996.2:c.1111C>T, NM_001130996.1:c.1111C>T, NM_001364187.1:c.1111C>T, XM_011543358.2:c.1111C>T, XM_011543358.1:c.1111C>T, XM_011543357.2:c.1171C>T, XM_011543357.1:c.1171C>T, XM_011543359.2:c.1171C>T, XM_011543359.1:c.1171C>T, NP_000850.1:p.Arg371Cys, NP_001124468.1:p.Arg371Cys, NP_001351116.1:p.Arg371Cys, XP_011541660.1:p.Arg371Cys, XP_011541659.1:p.Arg391Cys, XP_011541661.1:p.Arg391Cys

Select item 14878373704.

rs1487837370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:75343896 (GRCh38)
5:74639721 (GRCh37)
Canonical SPDI:: NC_000005.10:75343895:G:T
Gene:: HMGCR (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)
HGVS:: NC_000005.10:g.75343896G>T, NC_000005.9:g.74639721G>T, NG_011449.1:g.11729G>T, NM_000859.3:c.209G>T, NM_000859.2:c.209G>T, NM_001130996.2:c.209G>T, NM_001130996.1:c.209G>T, NM_001364187.1:c.209G>T, XM_011543358.2:c.209G>T, XM_011543358.1:c.209G>T, XM_011543357.2:c.269G>T, XM_011543357.1:c.269G>T, XM_011543359.2:c.269G>T, XM_011543359.1:c.269G>T, NP_000850.1:p.Cys70Phe, NP_001124468.1:p.Cys70Phe, NP_001351116.1:p.Cys70Phe, XP_011541660.1:p.Cys70Phe, XP_011541659.1:p.Cys90Phe, XP_011541661.1:p.Cys90Phe

Select item 14838157315.

rs1483815731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:75347204 (GRCh38)
5:74643029 (GRCh37)
Canonical SPDI:: NC_000005.10:75347203:G:A
Gene:: HMGCR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.75347204G>A, NC_000005.9:g.74643029G>A, NG_011449.1:g.15037G>A, NM_000859.3:c.451G>A, NM_000859.2:c.451G>A, NM_001130996.2:c.451G>A, NM_001130996.1:c.451G>A, NM_001364187.1:c.451G>A, XM_011543358.2:c.451G>A, XM_011543358.1:c.451G>A, XM_011543357.2:c.511G>A, XM_011543357.1:c.511G>A, XM_011543359.2:c.511G>A, XM_011543359.1:c.511G>A, NP_000850.1:p.Asp151Asn, NP_001124468.1:p.Asp151Asn, NP_001351116.1:p.Asp151Asn, XP_011541660.1:p.Asp151Asn, XP_011541659.1:p.Asp171Asn, XP_011541661.1:p.Asp171Asn

Select item 14837640386.

rs1483764038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:75351117 (GRCh38)
5:74646942 (GRCh37)
Canonical SPDI:: NC_000005.10:75351116:C:T
Gene:: HMGCR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.75351117C>T, NC_000005.9:g.74646942C>T, NG_011449.1:g.18950C>T, NM_000859.3:c.991C>T, NM_000859.2:c.991C>T, NM_001130996.2:c.991C>T, NM_001130996.1:c.991C>T, NM_001364187.1:c.991C>T, XM_011543358.2:c.991C>T, XM_011543358.1:c.991C>T, XM_011543357.2:c.1051C>T, XM_011543357.1:c.1051C>T, XM_011543359.2:c.1051C>T, XM_011543359.1:c.1051C>T, NP_000850.1:p.Leu331Phe, NP_001124468.1:p.Leu331Phe, NP_001351116.1:p.Leu331Phe, XP_011541660.1:p.Leu331Phe, XP_011541659.1:p.Leu351Phe, XP_011541661.1:p.Leu351Phe

Select item 14836993057.

rs1483699305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:75351487 (GRCh38)
5:74647312 (GRCh37)
Canonical SPDI:: NC_000005.10:75351486:G:T
Gene:: HMGCR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.75351487G>T, NC_000005.9:g.74647312G>T, NG_011449.1:g.19320G>T, NM_000859.3:c.1253G>T, NM_000859.2:c.1253G>T, NM_001130996.2:c.1253G>T, NM_001130996.1:c.1253G>T, NM_001364187.1:c.1253G>T, XM_011543358.2:c.1253G>T, XM_011543358.1:c.1253G>T, XM_011543357.2:c.1313G>T, XM_011543357.1:c.1313G>T, XM_011543359.2:c.1313G>T, XM_011543359.1:c.1313G>T, NP_000850.1:p.Gly418Val, NP_001124468.1:p.Gly418Val, NP_001351116.1:p.Gly418Val, XP_011541660.1:p.Gly418Val, XP_011541659.1:p.Gly438Val, XP_011541661.1:p.Gly438Val

Select item 14824684888.

rs1482468488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:75354565 (GRCh38)
5:74650390 (GRCh37)
Canonical SPDI:: NC_000005.10:75354564:A:C
Gene:: HMGCR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000005.10:g.75354565A>C, NC_000005.9:g.74650390A>C, NG_011449.1:g.22398A>C, NM_000859.3:c.1431A>C, NM_000859.2:c.1431A>C, NM_001130996.2:c.1431A>C, NM_001130996.1:c.1431A>C, NM_001364187.1:c.1431A>C, XM_011543358.2:c.1431A>C, XM_011543358.1:c.1431A>C, XM_011543357.2:c.1491A>C, XM_011543357.1:c.1491A>C, XM_011543359.2:c.1491A>C, XM_011543359.1:c.1491A>C

Select item 14811669419.

rs1481166941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:75351428 (GRCh38)
5:74647253 (GRCh37)
Canonical SPDI:: NC_000005.10:75351427:G:A
Gene:: HMGCR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.75351428G>A, NC_000005.9:g.74647253G>A, NG_011449.1:g.19261G>A, NM_000859.3:c.1194G>A, NM_000859.2:c.1194G>A, NM_001130996.2:c.1194G>A, NM_001130996.1:c.1194G>A, NM_001364187.1:c.1194G>A, XM_011543358.2:c.1194G>A, XM_011543358.1:c.1194G>A, XM_011543357.2:c.1254G>A, XM_011543357.1:c.1254G>A, XM_011543359.2:c.1254G>A, XM_011543359.1:c.1254G>A

Select item 148073572910.

rs1480735729 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:75355497 (GRCh38)
5:74651322 (GRCh37)
Canonical SPDI:: NC_000005.10:75355496:A:C
Gene:: HMGCR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.75355497A>C, NC_000005.9:g.74651322A>C, NG_011449.1:g.23330A>C, NM_000859.3:c.1855A>C, NM_000859.2:c.1855A>C, NM_001130996.2:c.1696A>C, NM_001130996.1:c.1696A>C, NM_001364187.1:c.1855A>C, XM_011543358.2:c.1855A>C, XM_011543358.1:c.1855A>C, XM_011543357.2:c.1915A>C, XM_011543357.1:c.1915A>C, XM_011543359.2:c.1756A>C, XM_011543359.1:c.1756A>C, NP_000850.1:p.Lys619Gln, NP_001124468.1:p.Lys566Gln, NP_001351116.1:p.Lys619Gln, XP_011541660.1:p.Lys619Gln, XP_011541659.1:p.Lys639Gln, XP_011541661.1:p.Lys586Gln

Select item 147950954011.

rs1479509540 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:75343886 (GRCh38)
5:74639711 (GRCh37)
Canonical SPDI:: NC_000005.10:75343885:A:G
Gene:: HMGCR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.75343886A>G, NC_000005.9:g.74639711A>G, NG_011449.1:g.11719A>G, NM_000859.3:c.199A>G, NM_000859.2:c.199A>G, NM_001130996.2:c.199A>G, NM_001130996.1:c.199A>G, NM_001364187.1:c.199A>G, XM_011543358.2:c.199A>G, XM_011543358.1:c.199A>G, XM_011543357.2:c.259A>G, XM_011543357.1:c.259A>G, XM_011543359.2:c.259A>G, XM_011543359.1:c.259A>G, NP_000850.1:p.Ile67Val, NP_001124468.1:p.Ile67Val, NP_001351116.1:p.Ile67Val, XP_011541660.1:p.Ile67Val, XP_011541659.1:p.Ile87Val, XP_011541661.1:p.Ile87Val

Select item 147742374212.

rs1477423742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:75336605 (GRCh38)
5:74632430 (GRCh37)
Canonical SPDI:: NC_000005.10:75336604:G:C
Gene:: HMGCR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.75336605G>C, NC_000005.9:g.74632430G>C, NG_011449.1:g.4438G>C, XM_011543357.2:c.25G>C, XM_011543357.1:c.25G>C, XM_011543359.2:c.25G>C, XM_011543359.1:c.25G>C, XP_011541659.1:p.Glu9Gln, XP_011541661.1:p.Glu9Gln

Select item 147687684313.

rs1476876843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:75342589 (GRCh38)
5:74638414 (GRCh37)
Canonical SPDI:: NC_000005.10:75342588:A:G
Gene:: HMGCR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.75342589A>G, NC_000005.9:g.74638414A>G, NG_011449.1:g.10422A>G, NM_000859.3:c.-17A>G, NM_000859.2:c.-17A>G, NM_001130996.2:c.-17A>G, NM_001130996.1:c.-17A>G, NM_001364187.1:c.-17A>G, XM_011543358.2:c.-17A>G, XM_011543358.1:c.-17A>G, XM_011543357.2:c.44A>G, XM_011543357.1:c.44A>G, XM_011543359.2:c.44A>G, XM_011543359.1:c.44A>G, XP_011541659.1:p.Lys15Arg, XP_011541661.1:p.Lys15Arg

Select item 147667414414.

rs1476674144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:75354603 (GRCh38)
5:74650428 (GRCh37)
Canonical SPDI:: NC_000005.10:75354602:G:A
Gene:: HMGCR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.75354603G>A, NC_000005.9:g.74650428G>A, NG_011449.1:g.22436G>A, NM_000859.3:c.1469G>A, NM_000859.2:c.1469G>A, NM_001130996.2:c.1469G>A, NM_001130996.1:c.1469G>A, NM_001364187.1:c.1469G>A, XM_011543358.2:c.1469G>A, XM_011543358.1:c.1469G>A, XM_011543357.2:c.1529G>A, XM_011543357.1:c.1529G>A, XM_011543359.2:c.1529G>A, XM_011543359.1:c.1529G>A, NP_000850.1:p.Arg490His, NP_001124468.1:p.Arg490His, NP_001351116.1:p.Arg490His, XP_011541660.1:p.Arg490His, XP_011541659.1:p.Arg510His, XP_011541661.1:p.Arg510His

Select item 147640655715.

rs1476406557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:75351202 (GRCh38)
5:74647027 (GRCh37)
Canonical SPDI:: NC_000005.10:75351201:T:G
Gene:: HMGCR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.75351202T>G, NC_000005.9:g.74647027T>G, NG_011449.1:g.19035T>G, NM_000859.3:c.1076T>G, NM_000859.2:c.1076T>G, NM_001130996.2:c.1076T>G, NM_001130996.1:c.1076T>G, NM_001364187.1:c.1076T>G, XM_011543358.2:c.1076T>G, XM_011543358.1:c.1076T>G, XM_011543357.2:c.1136T>G, XM_011543357.1:c.1136T>G, XM_011543359.2:c.1136T>G, XM_011543359.1:c.1136T>G, NP_000850.1:p.Val359Gly, NP_001124468.1:p.Val359Gly, NP_001351116.1:p.Val359Gly, XP_011541660.1:p.Val359Gly, XP_011541659.1:p.Val379Gly, XP_011541661.1:p.Val379Gly

Select item 147548342216.

rs1475483422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:75358773 (GRCh38)
5:74654598 (GRCh37)
Canonical SPDI:: NC_000005.10:75358772:A:G
Gene:: HMGCR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.75358773A>G, NC_000005.9:g.74654598A>G, NG_011449.1:g.26606A>G, NM_000859.3:c.2103A>G, NM_000859.2:c.2103A>G, NM_001130996.2:c.1944A>G, NM_001130996.1:c.1944A>G, NM_001364187.1:c.2103A>G, XM_011543358.2:c.2103A>G, XM_011543358.1:c.2103A>G, XM_011543357.2:c.2163A>G, XM_011543357.1:c.2163A>G, XM_011543359.2:c.2004A>G, XM_011543359.1:c.2004A>G

Select item 147226891317.

rs1472268913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:75351496 (GRCh38)
5:74647321 (GRCh37)
Canonical SPDI:: NC_000005.10:75351495:C:T
Gene:: HMGCR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.75351496C>T, NC_000005.9:g.74647321C>T, NG_011449.1:g.19329C>T, NM_000859.3:c.1262C>T, NM_000859.2:c.1262C>T, NM_001130996.2:c.1262C>T, NM_001130996.1:c.1262C>T, NM_001364187.1:c.1262C>T, XM_011543358.2:c.1262C>T, XM_011543358.1:c.1262C>T, XM_011543357.2:c.1322C>T, XM_011543357.1:c.1322C>T, XM_011543359.2:c.1322C>T, XM_011543359.1:c.1322C>T, NP_000850.1:p.Ser421Phe, NP_001124468.1:p.Ser421Phe, NP_001351116.1:p.Ser421Phe, XP_011541660.1:p.Ser421Phe, XP_011541659.1:p.Ser441Phe, XP_011541661.1:p.Ser441Phe

Select item 147226102818.

rs1472261028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:75350816 (GRCh38)
5:74646641 (GRCh37)
Canonical SPDI:: NC_000005.10:75350815:C:T
Gene:: HMGCR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.75350816C>T, NC_000005.9:g.74646641C>T, NG_011449.1:g.18649C>T, NM_000859.3:c.808C>T, NM_000859.2:c.808C>T, NM_001130996.2:c.808C>T, NM_001130996.1:c.808C>T, NM_001364187.1:c.808C>T, XM_011543358.2:c.808C>T, XM_011543358.1:c.808C>T, XM_011543357.2:c.868C>T, XM_011543357.1:c.868C>T, XM_011543359.2:c.868C>T, XM_011543359.1:c.868C>T, NP_000850.1:p.His270Tyr, NP_001124468.1:p.His270Tyr, NP_001351116.1:p.His270Tyr, XP_011541660.1:p.His270Tyr, XP_011541659.1:p.His290Tyr, XP_011541661.1:p.His290Tyr

Select item 147101693419.

rs1471016934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:75359267 (GRCh38)
5:74655092 (GRCh37)
Canonical SPDI:: NC_000005.10:75359266:A:G
Gene:: HMGCR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.75359267A>G, NC_000005.9:g.74655092A>G, NG_011449.1:g.27100A>G, NM_000859.3:c.2255A>G, NM_000859.2:c.2255A>G, NM_001130996.2:c.2096A>G, NM_001130996.1:c.2096A>G, NM_001364187.1:c.2255A>G, XM_011543358.2:c.2255A>G, XM_011543358.1:c.2255A>G, XM_011543357.2:c.2315A>G, XM_011543357.1:c.2315A>G, XM_011543359.2:c.2156A>G, XM_011543359.1:c.2156A>G, NP_000850.1:p.His752Arg, NP_001124468.1:p.His699Arg, NP_001351116.1:p.His752Arg, XP_011541660.1:p.His752Arg, XP_011541659.1:p.His772Arg, XP_011541661.1:p.His719Arg

Select item 147006940320.

rs1470069403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:75358756 (GRCh38)
5:74654581 (GRCh37)
Canonical SPDI:: NC_000005.10:75358755:A:G
Gene:: HMGCR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.75358756A>G, NC_000005.9:g.74654581A>G, NG_011449.1:g.26589A>G, NM_000859.3:c.2086A>G, NM_000859.2:c.2086A>G, NM_001130996.2:c.1927A>G, NM_001130996.1:c.1927A>G, NM_001364187.1:c.2086A>G, XM_011543358.2:c.2086A>G, XM_011543358.1:c.2086A>G, XM_011543357.2:c.2146A>G, XM_011543357.1:c.2146A>G, XM_011543359.2:c.1987A>G, XM_011543359.1:c.1987A>G, NP_000850.1:p.Ile696Val, NP_001124468.1:p.Ile643Val, NP_001351116.1:p.Ile696Val, XP_011541660.1:p.Ile696Val, XP_011541659.1:p.Ile716Val, XP_011541661.1:p.Ile663Val

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