Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96264094G>A , CM000676.2:g.96264094G>A | GRCh38 |
| NC_000014.8:g.96730431G>A , CM000676.1:g.96730431G>A | GRCh37 |
| NC_000014.7:g.95800184G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000710.4:c.412G>A MANE Select | NP_000701.2:p.Val138Met |
| ENST00000216629.11:c.412G>A MANE Select | ENSP00000216629.6:p.Val138Met |
| NM_000710.3:c.412G>A | NP_000701.2:p.Val138Met |
| NM_001386007.1:c.412G>A | NP_001372936.1:p.Val138Met |
| ENST00000216629.10:c.412G>A | ENSP00000216629.6:p.Val138Met |
| ENST00000553356.1:c.412G>A | ENSP00000452064.1:p.Val138Met |
| ENST00000611804.1:c.412G>A | ENSP00000479276.1:p.Val138Met |