gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230160042A>T , CM000663.2:g.230160042A>T | GRCh38 |
| NC_000001.10:g.230295789A>T , CM000663.1:g.230295789A>T | GRCh37 |
| NC_000001.9:g.228362412A>T | NCBI36 |
| NG_011854.1:g.97834A>T | |
| NG_011854.2:g.107254A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366672.5:c.127-18176A>T MANE Select | ENSP00000355632.4:n.127-18176A>T | |
| ENST00000366672.4:c.127-18176A>T | ENSP00000355632.4:n.127-18176A>T | |
| ENST00000494106.1:n.90-18176A>T | ||
| NM_001291866.1:c.13-18176A>T | NP_001278795.1:n.13-18176A>T | |
| NM_004481.4:c.127-18176A>T | NP_004472.1:n.127-18176A>T | |
| XM_011544154.1:c.55-18176A>T | XP_011542456.1:n.55-18176A>T | |
| XM_011544155.1:c.-75-18176A>T | XP_011542457.1:n.-75-18176A>T | |
| XM_017000963.2:c.127-18176A>T | XP_016856452.1:n.127-18176A>T | |
| XM_017000964.2:c.34-18176A>T | XP_016856453.1:n.34-18176A>T | |
| XM_017000965.1:c.13-18176A>T | XP_016856454.1:n.13-18176A>T | |
| XM_017000966.1:c.-75-18176A>T | XP_016856455.1:n.-75-18176A>T | |
| NM_004481.5:c.127-18176A>T MANE Select | NP_004472.1:n.127-18176A>T | |
| NM_001291866.2:c.13-18176A>T | NP_001278795.1:n.13-18176A>T |