Linked Data
ClinVar Variation Id:
43269
dbSNP Id:
rs2276288
ExAC:
11:76912636 A / T
gnomAD v2:
11-76912636-A-T
gnomAD v3:
11-77201591-A-T
gnomAD v4:
11-77201591-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77201591A>T , CM000673.2:g.77201591A>T | GRCh38 |
| NC_000011.9:g.76912636A>T , CM000673.1:g.76912636A>T | GRCh37 |
| NC_000011.8:g.76590284A>T | NCBI36 |
| NG_009086.1:g.78327A>T | |
| NG_009086.2:g.78346A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409709.9:c.4996A>T MANE Select | ENSP00000386331.3:p.Ser1666Cys | |
| ENST00000670577.1:c.2837A>T | ||
| ENST00000409619.6:c.4849A>T | ENSP00000386635.2:p.Ser1617Cys | |
| ENST00000409709.7:c.4996A>T | ENSP00000386331.3:p.Ser1666Cys | |
| ENST00000458169.2:c.2422A>T | ENSP00000417017.2:p.Ser808Cys | |
| ENST00000458637.6:c.4882A>T | ENSP00000392185.2:p.Ser1628Cys | |
| ENST00000481328.7:n.2532A>T | ||
| NM_000260.3:c.4996A>T | NP_000251.3:p.Ser1666Cys | |
| NM_001127180.1:c.4882A>T | NP_001120652.1:p.Ser1628Cys | |
| XM_005274012.2:c.4879A>T | XP_005274069.1:p.Ser1627Cys | |
| XM_006718558.2:c.4987A>T | XP_006718621.1:p.Ser1663Cys | |
| XM_006718559.2:c.4882A>T | XP_006718622.1:p.Ser1628Cys | |
| XM_006718560.2:c.4879A>T | XP_006718623.1:p.Ser1627Cys | |
| XM_006718561.2:c.4882A>T | XP_006718624.1:p.Ser1628Cys | |
| XM_011545044.1:c.4996A>T | XP_011543346.1:p.Ser1666Cys | |
| XM_011545045.1:c.4990A>T | XP_011543347.1:p.Ser1664Cys | |
| XM_011545046.1:c.4963A>T | XP_011543348.1:p.Ser1655Cys | |
| XM_011545047.1:c.4900A>T | XP_011543349.1:p.Ser1634Cys | |
| XM_011545048.1:c.4771A>T | XP_011543350.1:p.Ser1591Cys | |
| XM_011545049.1:c.4759A>T | XP_011543351.1:p.Ser1587Cys | |
| XM_011545050.1:c.4732A>T | XP_011543352.1:p.Ser1578Cys | |
| XM_011545051.1:c.4996A>T | XP_011543353.1:p.Ser1666Cys | |
| XM_011545052.1:c.4996A>T | XP_011543354.1:p.Ser1666Cys | |
| XR_949938.1:n.5316A>T | ||
| XR_949941.1:n.5316A>T | ||
| XR_949942.1:n.5318A>T | ||
| XM_011545044.2:c.4996A>T | XP_011543346.1:p.Ser1666Cys | |
| XM_011545046.2:c.5086A>T | XP_011543348.2:p.Ser1696Cys | |
| XM_011545050.2:c.4732A>T | XP_011543352.1:p.Ser1578Cys | |
| XM_017017778.1:c.5080A>T | XP_016873267.1:p.Ser1694Cys | |
| XM_017017779.1:c.5077A>T | XP_016873268.1:p.Ser1693Cys | |
| XM_017017780.1:c.5086A>T | XP_016873269.1:p.Ser1696Cys | |
| XM_017017781.1:c.4990A>T | XP_016873270.1:p.Ser1664Cys | |
| XM_017017782.1:c.4972A>T | XP_016873271.1:p.Ser1658Cys | |
| XM_017017783.1:c.4969A>T | XP_016873272.1:p.Ser1657Cys | |
| XM_017017784.1:c.4969A>T | XP_016873273.1:p.Ser1657Cys | |
| XM_017017785.1:c.4849A>T | XP_016873274.1:p.Ser1617Cys | |
| XM_017017786.1:c.5086A>T | XP_016873275.1:p.Ser1696Cys | |
| XM_017017788.1:c.4972A>T | XP_016873277.1:p.Ser1658Cys | |
| XR_001747885.1:n.5101A>T | ||
| XR_001747886.1:n.5101A>T | ||
| XR_001747887.1:n.5101A>T | ||
| XR_001747888.1:n.5101A>T | ||
| NM_000260.4:c.4996A>T MANE Select | NP_000251.3:p.Ser1666Cys | |
| NM_001127180.2:c.4882A>T | NP_001120652.1:p.Ser1628Cys | |
| NM_001369365.1:c.4849A>T | NP_001356294.1:p.Ser1617Cys |