Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.130690595C>A , CM000665.2:g.130690595C>A | GRCh38 |
| NC_000003.11:g.130409439C>A , CM000665.1:g.130409439C>A | GRCh37 |
| NC_000003.10:g.131892129C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014602.3:c.3158G>T MANE Select | NP_055417.1:p.Gly1053Val |
| ENST00000356763.8:c.3158G>T MANE Select | ENSP00000349205.3:p.Gly1053Val |
| NM_014602.2:c.3158G>T | NP_055417.1:p.Gly1053Val |
| ENST00000356763.7:c.3158G>T | ENSP00000349205.3:p.Gly1053Val |
| ENST00000512677.1:n.63G>T |