Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68688093G>T , CM000673.2:g.68688093G>T | GRCh38 |
| NC_000011.9:g.68455561G>T , CM000673.1:g.68455561G>T | GRCh37 |
| NC_000011.8:g.68212137G>T | NCBI36 |
| NG_052785.1:g.8619G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015973.5:c.216G>T MANE Select | NP_057057.2:p.Met72Ile |
| ENST00000265643.4:c.216G>T MANE Select | ENSP00000265643.3:p.Met72Ile |
| NM_015973.3:c.216G>T | NP_057057.2:p.Met72Ile |
| NM_015973.4:c.216G>T | NP_057057.2:p.Met72Ile |
| ENST00000265643.3:c.216G>T | ENSP00000265643.3:p.Met72Ile |
| XR_001748281.1:n.68-90C>A |