Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104569412T>C , CM000671.2:g.104569412T>C | GRCh38 |
| NC_000009.11:g.107331693T>C , CM000671.1:g.107331693T>C | GRCh37 |
| NC_000009.10:g.106371514T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001004483.1:c.245T>C MANE Select | NP_001004483.1:p.Leu82Pro |
| ENST00000335040.1:c.245T>C MANE Select | ENSP00000334068.1:p.Leu82Pro |