Linked Data
ClinVar Variation Id:
1577638
ClinVar RCV Id:
RCV002088091
dbSNP Id:
rs1957844295
gnomAD v4:
11-77211226-C-T
MyVariant Identifiers:
chr11:g.76922271C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77211226C>T , CM000673.2:g.77211226C>T | GRCh38 |
| NC_000011.9:g.76922271C>T , CM000673.1:g.76922271C>T | GRCh37 |
| NC_000011.8:g.76599919C>T | NCBI36 |
| NG_009086.1:g.87962C>T | |
| NG_009086.2:g.87981C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409709.9:c.6126C>T MANE Select | ENSP00000386331.3:p.Tyr2042= | |
| ENST00000670577.1:c.3927C>T | ||
| ENST00000409619.6:c.5979C>T | ENSP00000386635.2:p.Tyr1993= | |
| ENST00000409709.7:c.6126C>T | ENSP00000386331.3:p.Tyr2042= | |
| ENST00000458169.2:c.3552C>T | ENSP00000417017.2:p.Tyr1184= | |
| ENST00000458637.6:c.6012C>T | ENSP00000392185.2:p.Tyr2004= | |
| ENST00000481328.7:n.3662C>T | ||
| ENST00000526863.2:n.25+315C>T | ||
| ENST00000605744.1:n.1593C>T | ||
| NM_000260.3:c.6126C>T | NP_000251.3:p.Tyr2042= | |
| NM_001127180.1:c.6012C>T | NP_001120652.1:p.Tyr2004= | |
| XM_005274012.2:c.6009C>T | XP_005274069.1:p.Tyr2003= | |
| XM_006718558.2:c.6117C>T | XP_006718621.1:p.Tyr2039= | |
| XM_006718559.2:c.6012C>T | XP_006718622.1:p.Tyr2004= | |
| XM_006718560.2:c.6009C>T | XP_006718623.1:p.Tyr2003= | |
| XM_006718561.2:c.6012C>T | XP_006718624.1:p.Tyr2004= | |
| XM_011545044.1:c.6126C>T | XP_011543346.1:p.Tyr2042= | |
| XM_011545045.1:c.6120C>T | XP_011543347.1:p.Tyr2040= | |
| XM_011545046.1:c.6093C>T | XP_011543348.1:p.Tyr2031= | |
| XM_011545047.1:c.6030C>T | XP_011543349.1:p.Tyr2010= | |
| XM_011545048.1:c.5901C>T | XP_011543350.1:p.Tyr1967= | |
| XM_011545049.1:c.5889C>T | XP_011543351.1:p.Tyr1963= | |
| XM_011545050.1:c.5862C>T | XP_011543352.1:p.Tyr1954= | |
| XM_011545051.1:c.6126C>T | XP_011543353.1:p.Tyr2042= | |
| XR_949938.1:n.6446C>T | ||
| XR_949941.1:n.6420C>T | ||
| XM_011545044.2:c.6126C>T | XP_011543346.1:p.Tyr2042= | |
| XM_011545046.2:c.6216C>T | XP_011543348.2:p.Tyr2072= | |
| XM_011545050.2:c.5862C>T | XP_011543352.1:p.Tyr1954= | |
| XM_017017778.1:c.6210C>T | XP_016873267.1:p.Tyr2070= | |
| XM_017017779.1:c.6207C>T | XP_016873268.1:p.Tyr2069= | |
| XM_017017780.1:c.6216C>T | XP_016873269.1:p.Tyr2072= | |
| XM_017017781.1:c.6120C>T | XP_016873270.1:p.Tyr2040= | |
| XM_017017782.1:c.6102C>T | XP_016873271.1:p.Tyr2034= | |
| XM_017017783.1:c.6099C>T | XP_016873272.1:p.Tyr2033= | |
| XM_017017784.1:c.6099C>T | XP_016873273.1:p.Tyr2033= | |
| XM_017017785.1:c.5979C>T | XP_016873274.1:p.Tyr1993= | |
| XM_017017786.1:c.6216C>T | XP_016873275.1:p.Tyr2072= | |
| XM_017017788.1:c.6102C>T | XP_016873277.1:p.Tyr2034= | |
| XR_001747885.1:n.6205C>T | ||
| XR_001747886.1:n.6146C>T | ||
| XR_001747887.1:n.6191C>T | ||
| NM_000260.4:c.6126C>T MANE Select | NP_000251.3:p.Tyr2042= | |
| NM_001127180.2:c.6012C>T | NP_001120652.1:p.Tyr2004= | |
| NM_001369365.1:c.5979C>T | NP_001356294.1:p.Tyr1993= |