Linked Data
ClinVar Variation Id:
1342381
ClinVar RCV Id:
RCV001839132
dbSNP Id:
rs375448719
ExAC:
17:73489976 C / T
gnomAD v2:
17-73489976-C-T
gnomAD v3:
17-75493895-C-T
gnomAD v4:
17-75493895-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75493895C>T , CM000679.2:g.75493895C>T | GRCh38 |
| NC_000017.10:g.73489976C>T , CM000679.1:g.73489976C>T | GRCh37 |
| NC_000017.9:g.71001571C>T | NCBI36 |
| NG_054884.1:g.57737C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577245.2:c.2386C>T | ENSP00000462084.2:p.Arg796Cys | |
| ENST00000577247.6:c.2386C>T | ENSP00000464437.2:p.Arg796Cys | |
| ENST00000578853.2:c.2338C>T | ENSP00000463487.2:p.Arg780Cys | |
| ENST00000580918.2:c.2398C>T | ENSP00000464679.2:p.Arg800Cys | |
| ENST00000705117.1:c.2398C>T | ENSP00000516070.1:p.Arg800Cys | |
| ENST00000314256.12:c.2386C>T MANE Select | ENSP00000313885.7:p.Arg796Cys | |
| ENST00000314256.11:c.2386C>T | ENSP00000313885.7:p.Arg796Cys | |
| ENST00000375248.9:c.2416C>T | ENSP00000364397.5:p.Arg806Cys | |
| ENST00000579208.5:c.1339C>T | ENSP00000463929.1:p.Arg447Cys | |
| ENST00000581085.5:n.2991C>T | ||
| ENST00000585105.5:n.3238C>T | ||
| NM_014738.4:c.2386C>T | NP_055553.3:p.Arg796Cys | |
| XM_005257864.2:c.2428C>T | XP_005257921.1:p.Arg810Cys | |
| XM_005257865.2:c.2416C>T | XP_005257922.1:p.Arg806Cys | |
| XM_011525514.1:c.2428C>T | XP_011523816.1:p.Arg810Cys | |
| XM_011525515.1:c.2428C>T | XP_011523817.1:p.Arg810Cys | |
| XM_011525516.1:c.2428C>T | XP_011523818.1:p.Arg810Cys | |
| XM_011525517.1:c.2428C>T | XP_011523819.1:p.Arg810Cys | |
| XM_011525518.1:c.2386C>T | XP_011523820.1:p.Arg796Cys | |
| XM_011525519.1:c.1651C>T | XP_011523821.1:p.Arg551Cys | |
| XM_011525520.1:c.1624C>T | XP_011523822.1:p.Arg542Cys | |
| XM_011525521.1:c.808C>T | XP_011523823.1:p.Arg270Cys | |
| NM_001321148.1:c.2416C>T | NP_001308077.1:p.Arg806Cys | |
| NM_001321149.1:c.2398C>T | NP_001308078.1:p.Arg800Cys | |
| NM_001351202.1:c.2338C>T | NP_001338131.1:p.Arg780Cys | |
| NM_001351203.1:c.2416C>T | NP_001338132.1:p.Arg806Cys | |
| NM_014738.5:c.2386C>T | NP_055553.3:p.Arg796Cys | |
| XM_011525514.2:c.2428C>T | XP_011523816.1:p.Arg810Cys | |
| XM_011525520.2:c.1624C>T | XP_011523822.1:p.Arg542Cys | |
| XM_017025433.1:c.2458C>T | XP_016880922.1:p.Arg820Cys | |
| XM_017025434.1:c.2458C>T | XP_016880923.1:p.Arg820Cys | |
| XM_017025435.1:c.2446C>T | XP_016880924.1:p.Arg816Cys | |
| XM_017025436.1:c.2428C>T | XP_016880925.1:p.Arg810Cys | |
| XM_017025437.1:c.2416C>T | XP_016880926.1:p.Arg806Cys | |
| XM_017025438.1:c.2410C>T | XP_016880927.1:p.Arg804Cys | |
| XM_017025439.1:c.2398C>T | XP_016880928.1:p.Arg800Cys | |
| XM_017025440.2:c.2386C>T | XP_016880929.1:p.Arg796Cys | |
| XM_017025441.1:c.2458C>T | XP_016880930.1:p.Arg820Cys | |
| XM_017025442.1:c.2458C>T | XP_016880931.1:p.Arg820Cys | |
| XM_017025443.1:c.2368C>T | XP_016880932.1:p.Arg790Cys | |
| XM_017025444.1:c.2458C>T | XP_016880933.1:p.Arg820Cys | |
| XM_017025446.1:c.2380C>T | XP_016880935.1:p.Arg794Cys | |
| XM_017025447.1:c.2458C>T | XP_016880936.1:p.Arg820Cys | |
| XM_017025448.1:c.2368C>T | XP_016880937.1:p.Arg790Cys | |
| XM_017025450.1:c.2236C>T | XP_016880939.1:p.Arg746Cys | |
| XR_001752706.1:n.2645C>T | ||
| NM_014738.6:c.2386C>T MANE Select | NP_055553.3:p.Arg796Cys | |
| NM_001321148.2:c.2416C>T | NP_001308077.1:p.Arg806Cys | |
| NM_001321149.2:c.2398C>T | NP_001308078.1:p.Arg800Cys | |
| NM_001351202.2:c.2338C>T | NP_001338131.1:p.Arg780Cys | |
| NM_001351203.2:c.2416C>T | NP_001338132.1:p.Arg806Cys |