Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456993C>T , CM000683.2:g.44456993C>T | GRCh38 |
| NC_000021.8:g.45876876C>T , CM000683.1:g.45876876C>T | GRCh37 |
| NC_000021.7:g.44701304C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.349C>T MANE Select | ENSP00000291592.4:p.Leu117= | |
| ENST00000291592.5:c.349C>T | ENSP00000291592.4:p.Leu117= | |
| NM_030891.4:c.349C>T | NP_112153.1:p.Leu117= | |
| NM_030891.5:c.349C>T | NP_112153.1:p.Leu117= | |
| NM_030891.6:c.349C>T MANE Select | NP_112153.1:p.Leu117= |