Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73362732G>T , CM000668.2:g.73362732G>T | GRCh38 |
| NC_000006.11:g.74072455G>T , CM000668.1:g.74072455G>T | GRCh37 |
| NC_000006.10:g.74129176G>T | NCBI36 |
| NG_031942.1:g.5056G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001017361.3:c.3G>T MANE Select | NP_001017361.1:p.Met1Ile |
| ENST00000370367.4:c.3G>T MANE Select | ENSP00000359392.3:p.Met1Ile |
| NM_001017361.2:c.3G>T | NP_001017361.1:p.Met1Ile |
| ENST00000370367.3:c.3G>T | ENSP00000359392.3:p.Met1Ile |
| XM_006715351.2:c.3G>T | XP_006715414.1:p.Met1Ile |