Linked Data
dbSNP Id:
rs771914005
ExAC:
11:76918378 G / C
gnomAD v2:
11-76918378-G-C
gnomAD v4:
11-77207333-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77207333G>C , CM000673.2:g.77207333G>C | GRCh38 |
| NC_000011.9:g.76918378G>C , CM000673.1:g.76918378G>C | GRCh37 |
| NC_000011.8:g.76596026G>C | NCBI36 |
| NG_009086.1:g.84069G>C | |
| NG_009086.2:g.84088G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5787G>C MANE Select | ENSP00000386331.3:p.Gln1929His | |
| ENST00000670577.1:c.3614G>C | ||
| ENST00000409619.6:c.5640G>C | ENSP00000386635.2:p.Gln1880His | |
| ENST00000409709.7:c.5787G>C | ENSP00000386331.3:p.Gln1929His | |
| ENST00000458169.2:c.3213G>C | ENSP00000417017.2:p.Gln1071His | |
| ENST00000458637.6:c.5673G>C | ENSP00000392185.2:p.Gln1891His | |
| ENST00000481328.7:n.3323G>C | ||
| ENST00000605744.1:n.701G>C | ||
| NM_000260.3:c.5787G>C | NP_000251.3:p.Gln1929His | |
| NM_001127180.1:c.5673G>C | NP_001120652.1:p.Gln1891His | |
| XM_005274012.2:c.5670G>C | XP_005274069.1:p.Gln1890His | |
| XM_006718558.2:c.5778G>C | XP_006718621.1:p.Gln1926His | |
| XM_006718559.2:c.5673G>C | XP_006718622.1:p.Gln1891His | |
| XM_006718560.2:c.5670G>C | XP_006718623.1:p.Gln1890His | |
| XM_006718561.2:c.5673G>C | XP_006718624.1:p.Gln1891His | |
| XM_011545044.1:c.5787G>C | XP_011543346.1:p.Gln1929His | |
| XM_011545045.1:c.5781G>C | XP_011543347.1:p.Gln1927His | |
| XM_011545046.1:c.5754G>C | XP_011543348.1:p.Gln1918His | |
| XM_011545047.1:c.5691G>C | XP_011543349.1:p.Gln1897His | |
| XM_011545048.1:c.5562G>C | XP_011543350.1:p.Gln1854His | |
| XM_011545049.1:c.5550G>C | XP_011543351.1:p.Gln1850His | |
| XM_011545050.1:c.5523G>C | XP_011543352.1:p.Gln1841His | |
| XM_011545051.1:c.5787G>C | XP_011543353.1:p.Gln1929His | |
| XR_949938.1:n.6107G>C | ||
| XR_949941.1:n.6107G>C | ||
| XM_011545044.2:c.5787G>C | XP_011543346.1:p.Gln1929His | |
| XM_011545046.2:c.5877G>C | XP_011543348.2:p.Gln1959His | |
| XM_011545050.2:c.5523G>C | XP_011543352.1:p.Gln1841His | |
| XM_017017778.1:c.5871G>C | XP_016873267.1:p.Gln1957His | |
| XM_017017779.1:c.5868G>C | XP_016873268.1:p.Gln1956His | |
| XM_017017780.1:c.5877G>C | XP_016873269.1:p.Gln1959His | |
| XM_017017781.1:c.5781G>C | XP_016873270.1:p.Gln1927His | |
| XM_017017782.1:c.5763G>C | XP_016873271.1:p.Gln1921His | |
| XM_017017783.1:c.5760G>C | XP_016873272.1:p.Gln1920His | |
| XM_017017784.1:c.5760G>C | XP_016873273.1:p.Gln1920His | |
| XM_017017785.1:c.5640G>C | XP_016873274.1:p.Gln1880His | |
| XM_017017786.1:c.5877G>C | XP_016873275.1:p.Gln1959His | |
| XM_017017788.1:c.5763G>C | XP_016873277.1:p.Gln1921His | |
| XR_001747885.1:n.5892G>C | ||
| XR_001747886.1:n.5807G>C | ||
| XR_001747887.1:n.5878G>C | ||
| NM_000260.4:c.5787G>C MANE Select | NP_000251.3:p.Gln1929His | |
| NM_001127180.2:c.5673G>C | NP_001120652.1:p.Gln1891His | |
| NM_001369365.1:c.5640G>C | NP_001356294.1:p.Gln1880His |