Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895271C>T , CM000685.2:g.141895271C>T | GRCh38 |
| NC_000023.10:g.140983057C>T , CM000685.1:g.140983057C>T | GRCh37 |
| NC_000023.9:g.140810723C>T | NCBI36 |
| NG_013272.1:g.61956C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298296.1:c.912C>T MANE Select | ENSP00000298296.1:p.Pro304= | |
| ENST00000443323.2:c.-118-1160C>T | ENSP00000438254.1:n.-118-1160C>T | |
| ENST00000483584.5:n.152C>T | ||
| ENST00000544766.5:c.-376C>T | ENSP00000440444.1:n.-376C>T | |
| NM_138702.1:c.912C>T MANE Select | NP_619647.1:p.Pro304= | |
| NM_177456.2:c.-376C>T | NP_803251.1:n.-376C>T | |
| XM_011531267.1:c.-299C>T | XP_011529569.1:n.-299C>T | |
| XM_011531267.3:c.-299C>T | XP_011529569.1:n.-299C>T | |
| XM_017029265.2:c.-376C>T | XP_016884754.1:n.-376C>T |