Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184060185C>T , CM000665.2:g.184060185C>T | GRCh38 |
| NC_000003.11:g.183777973C>T , CM000665.1:g.183777973C>T | GRCh37 |
| NC_000003.10:g.185260667C>T | NCBI36 |
| NG_012749.1:g.12139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.1177C>T MANE Select | ENSP00000322617.1:p.Leu393= | |
| ENST00000318351.1:c.1177C>T | ENSP00000322617.1:p.Leu393= | |
| NM_130770.2:c.1177C>T | NP_570126.2:p.Leu393= | |
| NM_130770.3:c.1177C>T MANE Select | NP_570126.2:p.Leu393= |