Linked Data
ClinVar Variation Id:
1076122
ClinVar RCV Id:
RCV001389906
dbSNP Id:
rs1957844295
gnomAD v4:
11-77211226-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77211226C>G , CM000673.2:g.77211226C>G | GRCh38 |
| NC_000011.9:g.76922271C>G , CM000673.1:g.76922271C>G | GRCh37 |
| NC_000011.8:g.76599919C>G | NCBI36 |
| NG_009086.1:g.87962C>G | |
| NG_009086.2:g.87981C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409709.9:c.6126C>G MANE Select | ENSP00000386331.3:p.Tyr2042Ter | |
| ENST00000670577.1:c.3927C>G | ||
| ENST00000409619.6:c.5979C>G | ENSP00000386635.2:p.Tyr1993Ter | |
| ENST00000409709.7:c.6126C>G | ENSP00000386331.3:p.Tyr2042Ter | |
| ENST00000458169.2:c.3552C>G | ENSP00000417017.2:p.Tyr1184Ter | |
| ENST00000458637.6:c.6012C>G | ENSP00000392185.2:p.Tyr2004Ter | |
| ENST00000481328.7:n.3662C>G | ||
| ENST00000526863.2:n.25+315C>G | ||
| ENST00000605744.1:n.1593C>G | ||
| NM_000260.3:c.6126C>G | NP_000251.3:p.Tyr2042Ter | |
| NM_001127180.1:c.6012C>G | NP_001120652.1:p.Tyr2004Ter | |
| XM_005274012.2:c.6009C>G | XP_005274069.1:p.Tyr2003Ter | |
| XM_006718558.2:c.6117C>G | XP_006718621.1:p.Tyr2039Ter | |
| XM_006718559.2:c.6012C>G | XP_006718622.1:p.Tyr2004Ter | |
| XM_006718560.2:c.6009C>G | XP_006718623.1:p.Tyr2003Ter | |
| XM_006718561.2:c.6012C>G | XP_006718624.1:p.Tyr2004Ter | |
| XM_011545044.1:c.6126C>G | XP_011543346.1:p.Tyr2042Ter | |
| XM_011545045.1:c.6120C>G | XP_011543347.1:p.Tyr2040Ter | |
| XM_011545046.1:c.6093C>G | XP_011543348.1:p.Tyr2031Ter | |
| XM_011545047.1:c.6030C>G | XP_011543349.1:p.Tyr2010Ter | |
| XM_011545048.1:c.5901C>G | XP_011543350.1:p.Tyr1967Ter | |
| XM_011545049.1:c.5889C>G | XP_011543351.1:p.Tyr1963Ter | |
| XM_011545050.1:c.5862C>G | XP_011543352.1:p.Tyr1954Ter | |
| XM_011545051.1:c.6126C>G | XP_011543353.1:p.Tyr2042Ter | |
| XR_949938.1:n.6446C>G | ||
| XR_949941.1:n.6420C>G | ||
| XM_011545044.2:c.6126C>G | XP_011543346.1:p.Tyr2042Ter | |
| XM_011545046.2:c.6216C>G | XP_011543348.2:p.Tyr2072Ter | |
| XM_011545050.2:c.5862C>G | XP_011543352.1:p.Tyr1954Ter | |
| XM_017017778.1:c.6210C>G | XP_016873267.1:p.Tyr2070Ter | |
| XM_017017779.1:c.6207C>G | XP_016873268.1:p.Tyr2069Ter | |
| XM_017017780.1:c.6216C>G | XP_016873269.1:p.Tyr2072Ter | |
| XM_017017781.1:c.6120C>G | XP_016873270.1:p.Tyr2040Ter | |
| XM_017017782.1:c.6102C>G | XP_016873271.1:p.Tyr2034Ter | |
| XM_017017783.1:c.6099C>G | XP_016873272.1:p.Tyr2033Ter | |
| XM_017017784.1:c.6099C>G | XP_016873273.1:p.Tyr2033Ter | |
| XM_017017785.1:c.5979C>G | XP_016873274.1:p.Tyr1993Ter | |
| XM_017017786.1:c.6216C>G | XP_016873275.1:p.Tyr2072Ter | |
| XM_017017788.1:c.6102C>G | XP_016873277.1:p.Tyr2034Ter | |
| XR_001747885.1:n.6205C>G | ||
| XR_001747886.1:n.6146C>G | ||
| XR_001747887.1:n.6191C>G | ||
| NM_000260.4:c.6126C>G MANE Select | NP_000251.3:p.Tyr2042Ter | |
| NM_001127180.2:c.6012C>G | NP_001120652.1:p.Tyr2004Ter | |
| NM_001369365.1:c.5979C>G | NP_001356294.1:p.Tyr1993Ter |