Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65116546C>T , CM000673.2:g.65116546C>T | GRCh38 |
| NC_000011.9:g.64884018C>T , CM000673.1:g.64884018C>T | GRCh37 |
| NC_000011.8:g.64640594C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310597.6:c.1108G>A MANE Select | ENSP00000308548.4:p.Val370Met | |
| ENST00000310597.5:c.1108G>A | ENSP00000308548.4:p.Val370Met | |
| NM_014205.3:c.1108G>A | NP_055020.1:p.Val370Met | |
| NM_014205.4:c.1108G>A MANE Select | NP_055020.1:p.Val370Met |