Linked Data
ClinVar Variation Id:
43274
ClinVar RCV Id:
RCV000036179
RCV000271936
RCV000367756
RCV000677322
RCV000755320
RCV001273508
RCV002496553
dbSNP Id:
rs77625410
ExAC:
11:76913457 A / G
gnomAD v2:
11-76913457-A-G
gnomAD v3:
11-77202412-A-G
gnomAD v4:
11-77202412-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77202412A>G , CM000673.2:g.77202412A>G | GRCh38 |
| NC_000011.9:g.76913457A>G , CM000673.1:g.76913457A>G | GRCh37 |
| NC_000011.8:g.76591105A>G | NCBI36 |
| NG_009086.1:g.79148A>G | |
| NG_009086.2:g.79167A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5156A>G MANE Select | ENSP00000386331.3:p.Tyr1719Cys | |
| ENST00000670577.1:c.2997A>G | ||
| ENST00000409619.6:c.5009A>G | ENSP00000386635.2:p.Tyr1670Cys | |
| ENST00000409709.7:c.5156A>G | ENSP00000386331.3:p.Tyr1719Cys | |
| ENST00000458169.2:c.2582A>G | ENSP00000417017.2:p.Tyr861Cys | |
| ENST00000458637.6:c.5042A>G | ENSP00000392185.2:p.Tyr1681Cys | |
| ENST00000481328.7:n.2692A>G | ||
| NM_000260.3:c.5156A>G | NP_000251.3:p.Tyr1719Cys | |
| NM_001127180.1:c.5042A>G | NP_001120652.1:p.Tyr1681Cys | |
| XM_005274012.2:c.5039A>G | XP_005274069.1:p.Tyr1680Cys | |
| XM_006718558.2:c.5147A>G | XP_006718621.1:p.Tyr1716Cys | |
| XM_006718559.2:c.5042A>G | XP_006718622.1:p.Tyr1681Cys | |
| XM_006718560.2:c.5039A>G | XP_006718623.1:p.Tyr1680Cys | |
| XM_006718561.2:c.5042A>G | XP_006718624.1:p.Tyr1681Cys | |
| XM_011545044.1:c.5156A>G | XP_011543346.1:p.Tyr1719Cys | |
| XM_011545045.1:c.5150A>G | XP_011543347.1:p.Tyr1717Cys | |
| XM_011545046.1:c.5123A>G | XP_011543348.1:p.Tyr1708Cys | |
| XM_011545047.1:c.5060A>G | XP_011543349.1:p.Tyr1687Cys | |
| XM_011545048.1:c.4931A>G | XP_011543350.1:p.Tyr1644Cys | |
| XM_011545049.1:c.4919A>G | XP_011543351.1:p.Tyr1640Cys | |
| XM_011545050.1:c.4892A>G | XP_011543352.1:p.Tyr1631Cys | |
| XM_011545051.1:c.5156A>G | XP_011543353.1:p.Tyr1719Cys | |
| XM_011545052.1:c.5156A>G | XP_011543354.1:p.Tyr1719Cys | |
| XR_949938.1:n.5476A>G | ||
| XR_949941.1:n.5476A>G | ||
| XR_949942.1:n.5478A>G | ||
| XM_011545044.2:c.5156A>G | XP_011543346.1:p.Tyr1719Cys | |
| XM_011545046.2:c.5246A>G | XP_011543348.2:p.Tyr1749Cys | |
| XM_011545050.2:c.4892A>G | XP_011543352.1:p.Tyr1631Cys | |
| XM_017017778.1:c.5240A>G | XP_016873267.1:p.Tyr1747Cys | |
| XM_017017779.1:c.5237A>G | XP_016873268.1:p.Tyr1746Cys | |
| XM_017017780.1:c.5246A>G | XP_016873269.1:p.Tyr1749Cys | |
| XM_017017781.1:c.5150A>G | XP_016873270.1:p.Tyr1717Cys | |
| XM_017017782.1:c.5132A>G | XP_016873271.1:p.Tyr1711Cys | |
| XM_017017783.1:c.5129A>G | XP_016873272.1:p.Tyr1710Cys | |
| XM_017017784.1:c.5129A>G | XP_016873273.1:p.Tyr1710Cys | |
| XM_017017785.1:c.5009A>G | XP_016873274.1:p.Tyr1670Cys | |
| XM_017017786.1:c.5246A>G | XP_016873275.1:p.Tyr1749Cys | |
| XM_017017788.1:c.5132A>G | XP_016873277.1:p.Tyr1711Cys | |
| XR_001747885.1:n.5261A>G | ||
| XR_001747886.1:n.5261A>G | ||
| XR_001747887.1:n.5261A>G | ||
| XR_001747888.1:n.5261A>G | ||
| NM_000260.4:c.5156A>G MANE Select | NP_000251.3:p.Tyr1719Cys | |
| NM_001127180.2:c.5042A>G | NP_001120652.1:p.Tyr1681Cys | |
| NM_001369365.1:c.5009A>G | NP_001356294.1:p.Tyr1670Cys |