Linked Data
ClinVar Variation Id:
5293
ClinVar RCV Id:
RCV000005612
RCV000005613
RCV000079502
RCV000115766
RCV000121607
RCV000144631
RCV001554314
RCV002251879
RCV002476933
dbSNP Id:
rs34612342
ExAC:
1:45798475 T / C
gnomAD v2:
1-45798475-T-C
gnomAD v3:
1-45332803-T-C
gnomAD v4:
1-45332803-T-C
PubMed:
PMID:11818965
PMID:12606733
PMID:16140997
PMID:16338133
PMID:16616356
PMID:17489848
PMID:17956577
PMID:18534194
PMID:19032956
PMID:19394335
PMID:19732775
PMID:19793053
PMID:19836313
PMID:19953527
PMID:20418187
PMID:20725929
PMID:20848659
PMID:21063410
PMID:21178863
PMID:22266422
PMID:22703879
PMID:22744763
PMID:22926731
PMID:23035301
PMID:23361220
PMID:23605219
PMID:23891399
PMID:24569162
PMID:24728327
PMID:24733792
PMID:25820570
PMID:25980754
PMID:26845104
PMID:27829682
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45332803T>C , CM000663.2:g.45332803T>C | GRCh38 |
| NC_000001.10:g.45798475T>C , CM000663.1:g.45798475T>C | GRCh37 |
| NC_000001.9:g.45571062T>C | NCBI36 |
| NG_008189.1:g.12668A>G , LRG_220:g.12668A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412971.6:c.68A>G | ENSP00000410263.2:p.Tyr23Cys | |
| ENST00000435155.2:c.485A>G | ENSP00000403655.2:p.Tyr162Cys | |
| ENST00000467459.6:c.452A>G | ENSP00000435889.2:p.Tyr151Cys | |
| ENST00000483127.2:c.470A>G | ENSP00000436469.2:p.Tyr157Cys | |
| ENST00000485271.6:c.452A>G | ENSP00000431264.2:p.Tyr151Cys | |
| ENST00000529892.6:c.494A>G | ENSP00000432528.2:p.Tyr165Cys | |
| ENST00000533178.6:c.116-116A>G | ENSP00000436430.2:n.116-116A>G | |
| ENST00000672314.2:c.452A>G | ENSP00000500828.2:p.Tyr151Cys | |
| ENST00000674679.2:c.*364A>G | ENSP00000501623.2:n.*364A>G | |
| ENST00000710952.2:c.536A>G MANE Plus Clinical | ENSP00000518552.2:p.Tyr179Cys | |
| ENST00000672818.3:c.527A>G | ENSP00000500891.1:p.Tyr176Cys | |
| ENST00000450313.6:c.462A>G | ENSP00000408176.2:p.Leu154= | |
| ENST00000456914.7:c.452A>G MANE Select | ENSP00000407590.2:p.Tyr151Cys | |
| ENST00000461495.6:c.*191A>G | ENSP00000437166.1:n.*191A>G | |
| ENST00000671856.1:n.398A>G | ||
| ENST00000671898.1:c.1040A>G | ENSP00000499896.1:p.Tyr347Cys | |
| ENST00000672011.1:c.420A>G | ENSP00000500418.1:p.Leu140= | |
| ENST00000672314.1:c.452A>G | ENSP00000500828.1:p.Tyr151Cys | |
| ENST00000672593.1:c.*265A>G | ENSP00000500455.1:n.*265A>G | |
| ENST00000672764.1:c.411A>G | ENSP00000500886.1:p.Leu137= | |
| ENST00000672818.2:c.527A>G | ENSP00000500891.1:p.Tyr176Cys | |
| ENST00000673134.1:c.*149A>G | ENSP00000500526.1:n.*149A>G | |
| ENST00000674679.1:c.480A>G | ENSP00000501623.1:n.480A>G | |
| ENST00000354383.10:c.455A>G | ENSP00000346354.6:p.Tyr152Cys | |
| ENST00000355498.6:c.452A>G | ENSP00000347685.2:p.Tyr151Cys | |
| ENST00000372098.7:c.527A>G | ENSP00000361170.3:p.Tyr176Cys | |
| ENST00000372104.5:c.452A>G | ENSP00000361176.1:p.Tyr151Cys | |
| ENST00000372110.7:c.497A>G | ENSP00000361182.3:p.Tyr166Cys | |
| ENST00000372115.7:c.494A>G | ENSP00000361187.3:p.Tyr165Cys | |
| ENST00000412971.5:c.68A>G | ENSP00000410263.1:p.Tyr23Cys | |
| ENST00000435155.1:c.485A>G | ENSP00000403655.1:p.Tyr162Cys | |
| ENST00000448481.5:c.485A>G | ENSP00000409718.1:p.Tyr162Cys | |
| ENST00000450313.5:c.536A>G | ENSP00000408176.1:p.Tyr179Cys | |
| ENST00000456914.6:c.452A>G | ENSP00000407590.2:p.Tyr151Cys | |
| ENST00000461495.5:c.*191A>G | ENSP00000437166.1:n.*191A>G | |
| ENST00000462388.5:n.143A>G | ||
| ENST00000467940.5:c.*375A>G | ENSP00000436478.1:n.*375A>G | |
| ENST00000470256.5:c.339A>G | ENSP00000434985.1:p.Leu113= | |
| ENST00000475516.5:c.*265A>G | ENSP00000433843.1:n.*265A>G | |
| ENST00000476789.5:n.892A>G | ||
| ENST00000478796.5:n.439A>G | ||
| ENST00000479746.6:n.735A>G | ||
| ENST00000481139.5:n.925A>G | ||
| ENST00000481571.5:c.*265A>G | ENSP00000436597.1:n.*265A>G | |
| ENST00000483642.5:n.967A>G | ||
| ENST00000485484.5:n.753A>G | ||
| ENST00000488731.6:c.147A>G | ENSP00000432330.1:p.Leu49= | |
| ENST00000492494.5:n.849A>G | ||
| ENST00000525160.5:c.*103A>G | ENSP00000431568.1:n.*103A>G | |
| ENST00000528013.6:c.494A>G | ENSP00000433130.2:p.Tyr165Cys | |
| ENST00000529984.5:c.147A>G | ENSP00000437093.1:p.Leu49= | |
| ENST00000531105.5:c.115+1588A>G | ENSP00000431292.1:n.115+1588A>G | |
| ENST00000533178.5:c.122-116A>G | ENSP00000436430.1:n.122-116A>G | |
| NM_001048171.1:c.494A>G | NP_001041636.1:p.Tyr165Cys | |
| NM_001048172.1:c.455A>G | NP_001041637.1:p.Tyr152Cys | |
| NM_001048173.1:c.452A>G | NP_001041638.1:p.Tyr151Cys | |
| NM_001048174.1:c.452A>G | NP_001041639.1:p.Tyr151Cys | |
| NM_001128425.1:c.536A>G , LRG_220t1:c.536A>G | NP_001121897.1:p.Tyr179Cys | |
| NM_001293190.1:c.497A>G | NP_001280119.1:p.Tyr166Cys | |
| NM_001293191.1:c.485A>G | NP_001280120.1:p.Tyr162Cys | |
| NM_001293192.1:c.176A>G | NP_001280121.1:p.Tyr59Cys | |
| NM_001293195.1:c.452A>G | NP_001280124.1:p.Tyr151Cys | |
| NM_001293196.1:c.176A>G | NP_001280125.1:p.Tyr59Cys | |
| NM_012222.2:c.527A>G | NP_036354.1:p.Tyr176Cys | |
| XM_011541497.1:c.512A>G | XP_011539799.1:p.Tyr171Cys | |
| XM_011541498.1:c.494A>G | XP_011539800.1:p.Tyr165Cys | |
| XM_011541499.1:c.494A>G | XP_011539801.1:p.Tyr165Cys | |
| XM_011541500.1:c.494A>G | XP_011539802.1:p.Tyr165Cys | |
| XM_011541501.1:c.494A>G | XP_011539803.1:p.Tyr165Cys | |
| XM_011541502.1:c.494A>G | XP_011539804.1:p.Tyr165Cys | |
| XM_011541503.1:c.494A>G | XP_011539805.1:p.Tyr165Cys | |
| XM_011541504.1:c.485A>G | XP_011539806.1:p.Tyr162Cys | |
| XM_011541505.1:c.74A>G | XP_011539807.1:p.Tyr25Cys | |
| XM_011541506.1:c.74A>G | XP_011539808.1:p.Tyr25Cys | |
| XM_011541507.1:c.65A>G | XP_011539809.1:p.Tyr22Cys | |
| XM_011541508.1:c.80A>G | XP_011539810.1:p.Tyr27Cys | |
| XR_946658.1:n.583A>G | ||
| NM_001350650.1:c.107A>G | NP_001337579.1:p.Tyr36Cys | |
| NM_001350651.1:c.107A>G | NP_001337580.1:p.Tyr36Cys | |
| NR_146882.1:n.710A>G | ||
| NR_146883.1:n.524A>G | ||
| XM_011541497.3:c.512A>G | XP_011539799.1:p.Tyr171Cys | |
| XM_011541500.3:c.494A>G | XP_011539802.1:p.Tyr165Cys | |
| XM_011541501.2:c.494A>G | XP_011539803.1:p.Tyr165Cys | |
| XM_011541502.2:c.494A>G | XP_011539804.1:p.Tyr165Cys | |
| XM_011541503.2:c.494A>G | XP_011539805.1:p.Tyr165Cys | |
| XM_011541504.2:c.485A>G | XP_011539806.1:p.Tyr162Cys | |
| XM_011541505.2:c.74A>G | XP_011539807.1:p.Tyr25Cys | |
| XM_011541506.2:c.74A>G | XP_011539808.1:p.Tyr25Cys | |
| XM_017001331.1:c.494A>G | XP_016856820.1:p.Tyr165Cys | |
| XM_017001332.1:c.494A>G | XP_016856821.1:p.Tyr165Cys | |
| XM_017001333.1:c.494A>G | XP_016856822.1:p.Tyr165Cys | |
| XM_017001334.1:c.455A>G | XP_016856823.1:p.Tyr152Cys | |
| XM_017001335.1:c.176A>G | XP_016856824.1:p.Tyr59Cys | |
| XM_017001336.1:c.107A>G | XP_016856825.1:p.Tyr36Cys | |
| XM_017001337.1:c.107A>G | XP_016856826.1:p.Tyr36Cys | |
| XM_024447244.1:c.107A>G | XP_024303012.1:p.Tyr36Cys | |
| XM_024447245.1:c.107A>G | XP_024303013.1:p.Tyr36Cys | |
| XM_024447248.1:c.65A>G | XP_024303016.1:p.Tyr22Cys | |
| XM_024447249.1:c.-65A>G | XP_024303017.1:n.-65A>G | |
| XM_024447250.1:c.-65A>G | XP_024303018.1:n.-65A>G | |
| XM_024447251.1:c.-65A>G | XP_024303019.1:n.-65A>G | |
| XR_001737190.1:n.497A>G | ||
| XR_001737192.1:n.309A>G | ||
| XR_002956643.1:n.489A>G | ||
| XR_002956644.1:n.1024A>G | ||
| XR_946658.2:n.597A>G | ||
| NM_001048171.2:c.452A>G | NP_001041636.2:p.Tyr151Cys | |
| NM_001128425.2:c.536A>G MANE Plus Clinical | NP_001121897.1:p.Tyr179Cys | |
| NM_001048172.2:c.455A>G | NP_001041637.1:p.Tyr152Cys | |
| NM_001048173.2:c.452A>G | NP_001041638.1:p.Tyr151Cys | |
| NM_001048174.2:c.452A>G MANE Select | NP_001041639.1:p.Tyr151Cys | |
| NM_001293190.2:c.497A>G | NP_001280119.1:p.Tyr166Cys | |
| NM_001293191.2:c.485A>G | NP_001280120.1:p.Tyr162Cys | |
| NM_001293192.2:c.176A>G | NP_001280121.1:p.Tyr59Cys | |
| NM_001293195.2:c.452A>G | NP_001280124.1:p.Tyr151Cys | |
| NM_001293196.2:c.176A>G | NP_001280125.1:p.Tyr59Cys | |
| NM_001350650.2:c.107A>G | NP_001337579.1:p.Tyr36Cys | |
| NM_001350651.2:c.107A>G | NP_001337580.1:p.Tyr36Cys | |
| NM_012222.3:c.527A>G | NP_036354.1:p.Tyr176Cys | |
| NR_146882.2:n.680A>G | ||
| NR_146883.2:n.529A>G |