Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5968371T>C , CM000673.2:g.5968371T>C | GRCh38 |
| NC_000011.9:g.5989601T>C , CM000673.1:g.5989601T>C | GRCh37 |
| NC_000011.8:g.5946177T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001146033.1:c.124A>G MANE Select | NP_001139505.1:p.Met42Val |
| ENST00000532411.2:c.124A>G MANE Select | ENSP00000481594.1:p.Met42Val |