Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136055745C= , CM000667.2:g.136055745C= | GRCh38 |
| NC_000005.9:g.135391434C= , CM000667.1:g.135391434C= | GRCh37 |
| NC_000005.8:g.135419333C= | NCBI36 |
| NG_012646.1:g.31851C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1476C= MANE Select | ENSP00000416330.2:p.Phe492= | |
| ENST00000442011.6:c.1476C= | ENSP00000416330.2:p.Phe492= | |
| ENST00000506699.5:n.1993C= | ||
| ENST00000507018.5:c.1454C= | ||
| ENST00000509485.5:c.391C= | ||
| ENST00000514242.5:n.247C= | ||
| ENST00000514554.5:c.628C= | ||
| NM_000358.2:c.1476C= | NP_000349.1:p.Phe492= | |
| NM_000358.3:c.1476C= MANE Select | NP_000349.1:p.Phe492= |