Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152223172A>G , CM000663.2:g.152223172A>G | GRCh38 |
| NC_000001.10:g.152195648A>G , CM000663.1:g.152195648A>G | GRCh37 |
| NC_000001.9:g.150462272A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001009931.3:c.82T>C MANE Select | NP_001009931.1:p.Leu28= |
| ENST00000368801.4:c.82T>C MANE Select | ENSP00000357791.3:p.Leu28= |
| NM_001009931.2:c.82T>C | NP_001009931.1:p.Leu28= |
| ENST00000368801.2:c.82T>C | ENSP00000357791.2:p.Leu28= |