Linked Data
ClinVar Variation Id:
354172
dbSNP Id:
rs116781254
ExAC:
5:76717669 C / T
gnomAD v2:
5-76717669-C-T
gnomAD v3:
5-77421844-C-T
gnomAD v4:
5-77421844-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.77421844C>T , CM000667.2:g.77421844C>T | GRCh38 |
| NC_000005.9:g.76717669C>T , CM000667.1:g.76717669C>T | GRCh37 |
| NC_000005.8:g.76753425C>T | NCBI36 |
| NG_023364.1:g.215964C>T | |
| NG_023364.2:g.246593C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264917.10:c.2274C>T MANE Select | ENSP00000264917.6:p.Cys758= | |
| ENST00000646262.1:c.1902C>T | ENSP00000493971.1:p.Cys634= | |
| ENST00000264917.9:c.2274C>T | ENSP00000264917.5:p.Cys758= | |
| ENST00000333194.8:c.2109C>T | ENSP00000331336.4:p.Cys703= | |
| ENST00000340978.7:c.2133C>T | ENSP00000345446.3:p.Cys711= | |
| ENST00000342343.8:c.2214C>T | ENSP00000345646.4:p.Cys738= | |
| ENST00000346042.7:c.1983C>T | ENSP00000330428.3:p.Cys661= | |
| ENST00000505283.1:c.669C>T | ENSP00000423461.1:p.Cys223= | |
| NM_001029851.2:c.1983C>T | NP_001025022.1:p.Cys661= | |
| NM_001029852.2:c.2109C>T | NP_001025023.1:p.Cys703= | |
| NM_001029853.2:c.2214C>T | NP_001025024.1:p.Cys738= | |
| NM_001029854.2:c.2133C>T | NP_001025025.1:p.Cys711= | |
| NM_003719.3:c.2274C>T | NP_003710.1:p.Cys758= | |
| XM_005248621.3:c.2271C>T | XP_005248678.1:p.Cys757= | |
| XM_005248623.3:c.1971C>T | XP_005248680.1:p.Cys657= | |
| XM_005248624.3:c.1968C>T | XP_005248681.1:p.Cys656= | |
| XM_006714725.2:c.2337C>T | XP_006714788.1:p.Cys779= | |
| XM_006714726.2:c.2334C>T | XP_006714789.1:p.Cys778= | |
| XM_011543699.1:c.2337C>T | XP_011542001.1:p.Cys779= | |
| XM_011543700.1:c.2046C>T | XP_011542002.1:p.Cys682= | |
| XM_011543701.1:c.2034C>T | XP_011542003.1:p.Cys678= | |
| XM_011543702.1:c.1941C>T | XP_011542004.1:p.Cys647= | |
| XM_011543703.1:c.1959C>T | XP_011542005.1:p.Cys653= | |
| XM_011543704.1:c.1560C>T | XP_011542006.1:p.Cys520= | |
| NM_001349748.1:c.2271C>T | NP_001336677.1:p.Cys757= | |
| NM_001349749.1:c.2337C>T | NP_001336678.1:p.Cys779= | |
| NM_001349750.1:c.2034C>T | NP_001336679.1:p.Cys678= | |
| NM_001349751.1:c.2271C>T | NP_001336680.1:p.Cys757= | |
| NM_001349752.1:c.1968C>T | NP_001336681.1:p.Cys656= | |
| NM_001349753.1:c.1902C>T | NP_001336682.1:p.Cys634= | |
| XM_005248623.4:c.1971C>T | XP_005248680.1:p.Cys657= | |
| XM_006714726.3:c.2334C>T | XP_006714789.1:p.Cys778= | |
| XM_011543699.3:c.2337C>T | XP_011542001.1:p.Cys779= | |
| XM_011543700.3:c.2046C>T | XP_011542002.1:p.Cys682= | |
| XM_011543704.2:c.1560C>T | XP_011542006.1:p.Cys520= | |
| XM_017010005.2:c.1980C>T | XP_016865494.1:p.Cys660= | |
| XM_017010007.2:c.1971C>T | XP_016865496.1:p.Cys657= | |
| XM_017010008.2:c.1680C>T | XP_016865497.1:p.Cys560= | |
| XM_024446253.1:c.1902C>T | XP_024302021.1:p.Cys634= | |
| XM_024446254.1:c.1611C>T | XP_024302022.1:p.Cys537= | |
| NM_001029851.4:c.1983C>T | NP_001025022.1:p.Cys661= | |
| NM_001029852.4:c.2109C>T | NP_001025023.1:p.Cys703= | |
| NM_001029853.4:c.2214C>T | NP_001025024.1:p.Cys738= | |
| NM_001029854.4:c.2133C>T | NP_001025025.1:p.Cys711= | |
| NM_001349748.3:c.2271C>T | NP_001336677.1:p.Cys757= | |
| NM_001349749.3:c.2337C>T | NP_001336678.1:p.Cys779= | |
| NM_001349750.3:c.2034C>T | NP_001336679.1:p.Cys678= | |
| NM_001349751.3:c.2271C>T | NP_001336680.1:p.Cys757= | |
| NM_001349752.3:c.1968C>T | NP_001336681.1:p.Cys656= | |
| NM_001349753.2:c.1902C>T | NP_001336682.1:p.Cys634= | |
| NM_001376062.1:c.1971C>T | NP_001362991.1:p.Cys657= | |
| NM_001376063.1:c.2265C>T | NP_001362992.1:p.Cys755= | |
| NM_001376064.1:c.2124C>T | NP_001362993.1:p.Cys708= | |
| NM_001376065.1:c.1980C>T | NP_001362994.1:p.Cys660= | |
| NM_001376066.1:c.1911C>T | NP_001362995.1:p.Cys637= | |
| NM_001376067.1:c.1902C>T | NP_001362996.1:p.Cys634= | |
| NM_001376068.1:c.1902C>T | NP_001362997.1:p.Cys634= | |
| NM_001376069.1:c.1890C>T | NP_001362998.1:p.Cys630= | |
| NM_001376070.1:c.1830C>T | NP_001362999.1:p.Cys610= | |
| NM_001376071.1:c.1827C>T | NP_001363000.1:p.Cys609= | |
| NM_001376072.1:c.1971C>T | NP_001363001.1:p.Cys657= | |
| NM_001376073.1:c.1680C>T | NP_001363002.1:p.Cys560= | |
| NM_001376074.1:c.1620C>T | NP_001363003.1:p.Cys540= | |
| NM_001376075.1:c.1611C>T | NP_001363004.1:p.Cys537= | |
| NM_003719.5:c.2274C>T MANE Select | NP_003710.1:p.Cys758= |