Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24302018G>T , CM000668.2:g.24302018G>T | GRCh38 |
| NC_000006.11:g.24302246G>T , CM000668.1:g.24302246G>T | GRCh37 |
| NC_000006.10:g.24410225G>T | NCBI36 |
| NG_012829.1:g.61035C>A | |
| NG_012829.2:g.86275C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.375C>A MANE Select | ENSP00000367715.3:p.Ile125= | |
| ENST00000378454.7:c.375C>A | ENSP00000367715.3:p.Ile125= | |
| NM_001195610.1:c.375C>A | NP_001182539.1:p.Ile125= | |
| NM_016356.4:c.375C>A | NP_057440.2:p.Ile125= | |
| NM_016356.5:c.375C>A MANE Select | NP_057440.2:p.Ile125= | |
| NM_001195610.2:c.375C>A | NP_001182539.1:p.Ile125= |