gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233271764A>C , CM000664.2:g.233271764A>C | GRCh38 |
| NC_000002.11:g.234180410A>C , CM000664.1:g.234180410A>C | GRCh37 |
| NC_000002.10:g.233845149A>C | NCBI36 |
| NG_023038.1:g.25194A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392017.9:c.708-1202A>C MANE Select | ENSP00000375872.4:n.708-1202A>C | |
| ENST00000347464.9:c.276-1202A>C | ENSP00000318259.6:n.276-1202A>C | |
| ENST00000373525.9:c.276-1202A>C | ENSP00000362625.5:n.276-1202A>C | |
| ENST00000392017.8:c.708-1202A>C | ENSP00000375872.4:n.708-1202A>C | |
| ENST00000392018.1:c.708-1202A>C | ENSP00000375873.1:n.708-1202A>C | |
| ENST00000392020.8:c.708-1202A>C | ENSP00000375875.4:n.708-1202A>C | |
| ENST00000392021.7:c.*589-1202A>C | ENSP00000375876.3:n.*589-1202A>C | |
| ENST00000417017.5:c.456-1202A>C | ENSP00000412046.1:n.456-1202A>C | |
| ENST00000419681.5:c.276-1202A>C | ENSP00000398773.1:n.276-1202A>C | |
| ENST00000444735.5:c.276-1202A>C | ENSP00000409215.1:n.276-1202A>C | |
| ENST00000474148.5:n.835-1202A>C | ||
| ENST00000479942.5:n.854-1202A>C | ||
| ENST00000498620.5:n.272-1202A>C | ||
| NM_001190266.1:c.456-1202A>C | NP_001177195.1:n.456-1202A>C | |
| NM_001190267.1:c.360-1202A>C | NP_001177196.1:n.360-1202A>C | |
| NM_017974.3:c.708-1202A>C | NP_060444.3:n.708-1202A>C | |
| NM_030803.6:c.708-1202A>C | NP_110430.5:n.708-1202A>C | |
| NM_198890.2:c.276-1202A>C | NP_942593.2:n.276-1202A>C | |
| XM_005246082.1:c.708-1202A>C | XP_005246139.1:n.708-1202A>C | |
| XM_005246084.1:c.276-1202A>C | XP_005246141.1:n.276-1202A>C | |
| XM_005246086.1:c.276-1202A>C | XP_005246143.1:n.276-1202A>C | |
| XM_006712608.1:c.456-1202A>C | XP_006712671.1:n.456-1202A>C | |
| XR_241242.1:n.902-1202A>C | ||
| NM_001363742.1:c.708-1202A>C | NP_001350671.1:n.708-1202A>C | |
| XM_005246084.2:c.276-1202A>C | XP_005246141.1:n.276-1202A>C | |
| XM_005246086.2:c.276-1202A>C | XP_005246143.1:n.276-1202A>C | |
| XM_006712608.3:c.456-1202A>C | XP_006712671.1:n.456-1202A>C | |
| XR_001738801.2:n.889-1202A>C | ||
| XR_241242.3:n.889-1202A>C | ||
| NM_030803.7:c.708-1202A>C MANE Select | NP_110430.5:n.708-1202A>C | |
| NM_001190266.2:c.456-1202A>C | NP_001177195.1:n.456-1202A>C | |
| NM_001190267.2:c.360-1202A>C | NP_001177196.1:n.360-1202A>C | |
| NM_001363742.2:c.708-1202A>C | NP_001350671.1:n.708-1202A>C | |
| NM_017974.4:c.708-1202A>C | NP_060444.3:n.708-1202A>C | |
| NM_198890.3:c.276-1202A>C | NP_942593.2:n.276-1202A>C |