Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895280C= , CM000685.2:g.141895280C= | GRCh38 |
| NC_000023.10:g.140983066C= , CM000685.1:g.140983066C= | GRCh37 |
| NC_000023.9:g.140810732C= | NCBI36 |
| NG_013272.1:g.61965C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298296.1:c.921C= MANE Select | ENSP00000298296.1:p.Ala307= | |
| ENST00000443323.2:c.-118-1151C= | ENSP00000438254.1:n.-118-1151C= | |
| ENST00000483584.5:n.161C= | ||
| ENST00000544766.5:c.-367C= | ENSP00000440444.1:n.-367C= | |
| NM_138702.1:c.921C= MANE Select | NP_619647.1:p.Ala307= | |
| NM_177456.2:c.-367C= | NP_803251.1:n.-367C= | |
| XM_011531267.1:c.-290C= | XP_011529569.1:n.-290C= | |
| XM_011531267.3:c.-290C= | XP_011529569.1:n.-290C= | |
| XM_017029265.2:c.-367C= | XP_016884754.1:n.-367C= |