Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62613433C>T , CM000673.2:g.62613433C>T | GRCh38 |
| NC_000011.9:g.62380905C>T , CM000673.1:g.62380905C>T | GRCh37 |
| NC_000011.8:g.62137481C>T | NCBI36 |
| NG_009845.1:g.5693C>T | |
| NG_031863.1:g.13743G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278833.4:c.152C>T MANE Select | ENSP00000278833.3:p.Thr51Ile | |
| ENST00000278833.3:c.152C>T | ENSP00000278833.3:p.Thr51Ile | |
| ENST00000525801.1:c.-38-825C>T | ENSP00000433566.1:n.-38-825C>T | |
| ENST00000534093.5:c.-38-825C>T | ENSP00000432151.1:n.-38-825C>T | |
| NM_000327.3:c.152C>T | NP_000318.1:p.Thr51Ile | |
| NM_000327.4:c.152C>T MANE Select | NP_000318.2:p.Thr51Ile |