Linked Data
ClinVar Variation Id:
197497
dbSNP Id:
rs773844428
ExAC:
11:76919765 C / T
gnomAD v2:
11-76919765-C-T
gnomAD v3:
11-77208720-C-T
gnomAD v4:
11-77208720-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77208720C>T , CM000673.2:g.77208720C>T | GRCh38 |
| NC_000011.9:g.76919765C>T , CM000673.1:g.76919765C>T | GRCh37 |
| NC_000011.8:g.76597413C>T | NCBI36 |
| NG_009086.1:g.85456C>T | |
| NG_009086.2:g.85475C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5968C>T MANE Select | ENSP00000386331.3:p.Gln1990Ter | |
| ENST00000670577.1:c.3772-3C>T | ||
| ENST00000409619.6:c.5821C>T | ENSP00000386635.2:p.Gln1941Ter | |
| ENST00000409709.7:c.5968C>T | ENSP00000386331.3:p.Gln1990Ter | |
| ENST00000458169.2:c.3394C>T | ENSP00000417017.2:p.Gln1132Ter | |
| ENST00000458637.6:c.5854C>T | ENSP00000392185.2:p.Gln1952Ter | |
| ENST00000481328.7:n.3504C>T | ||
| ENST00000605744.1:n.882C>T | ||
| NM_000260.3:c.5968C>T | NP_000251.3:p.Gln1990Ter | |
| NM_001127180.1:c.5854C>T | NP_001120652.1:p.Gln1952Ter | |
| XM_005274012.2:c.5851C>T | XP_005274069.1:p.Gln1951Ter | |
| XM_006718558.2:c.5959C>T | XP_006718621.1:p.Gln1987Ter | |
| XM_006718559.2:c.5854C>T | XP_006718622.1:p.Gln1952Ter | |
| XM_006718560.2:c.5851C>T | XP_006718623.1:p.Gln1951Ter | |
| XM_006718561.2:c.5854C>T | XP_006718624.1:p.Gln1952Ter | |
| XM_011545044.1:c.5968C>T | XP_011543346.1:p.Gln1990Ter | |
| XM_011545045.1:c.5962C>T | XP_011543347.1:p.Gln1988Ter | |
| XM_011545046.1:c.5935C>T | XP_011543348.1:p.Gln1979Ter | |
| XM_011545047.1:c.5872C>T | XP_011543349.1:p.Gln1958Ter | |
| XM_011545048.1:c.5743C>T | XP_011543350.1:p.Gln1915Ter | |
| XM_011545049.1:c.5731C>T | XP_011543351.1:p.Gln1911Ter | |
| XM_011545050.1:c.5704C>T | XP_011543352.1:p.Gln1902Ter | |
| XM_011545051.1:c.5968C>T | XP_011543353.1:p.Gln1990Ter | |
| XR_949938.1:n.6288C>T | ||
| XR_949941.1:n.6265-3C>T | ||
| XM_011545044.2:c.5968C>T | XP_011543346.1:p.Gln1990Ter | |
| XM_011545046.2:c.6058C>T | XP_011543348.2:p.Gln2020Ter | |
| XM_011545050.2:c.5704C>T | XP_011543352.1:p.Gln1902Ter | |
| XM_017017778.1:c.6052C>T | XP_016873267.1:p.Gln2018Ter | |
| XM_017017779.1:c.6049C>T | XP_016873268.1:p.Gln2017Ter | |
| XM_017017780.1:c.6058C>T | XP_016873269.1:p.Gln2020Ter | |
| XM_017017781.1:c.5962C>T | XP_016873270.1:p.Gln1988Ter | |
| XM_017017782.1:c.5944C>T | XP_016873271.1:p.Gln1982Ter | |
| XM_017017783.1:c.5941C>T | XP_016873272.1:p.Gln1981Ter | |
| XM_017017784.1:c.5941C>T | XP_016873273.1:p.Gln1981Ter | |
| XM_017017785.1:c.5821C>T | XP_016873274.1:p.Gln1941Ter | |
| XM_017017786.1:c.6058C>T | XP_016873275.1:p.Gln2020Ter | |
| XM_017017788.1:c.5944C>T | XP_016873277.1:p.Gln1982Ter | |
| XR_001747885.1:n.6050-3C>T | ||
| XR_001747886.1:n.5988C>T | ||
| XR_001747887.1:n.6036-3C>T | ||
| NM_000260.4:c.5968C>T MANE Select | NP_000251.3:p.Gln1990Ter | |
| NM_001127180.2:c.5854C>T | NP_001120652.1:p.Gln1952Ter | |
| NM_001369365.1:c.5821C>T | NP_001356294.1:p.Gln1941Ter |