Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101212542G>A , CM000669.2:g.101212542G>A | GRCh38 |
| NC_000007.13:g.100855823G>A , CM000669.1:g.100855823G>A | GRCh37 |
| NC_000007.12:g.100642543G>A | NCBI36 |
| NG_012148.1:g.10189C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223127.8:c.993C>T MANE Select | ENSP00000223127.3:p.Phe331= | |
| ENST00000223127.7:c.993C>T | ENSP00000223127.3:p.Phe331= | |
| ENST00000421736.1:c.378-168C>T | ||
| ENST00000460475.1:n.136-168C>T | ||
| ENST00000478082.5:n.1193C>T | ||
| NM_001084.4:c.993C>T | NP_001075.1:p.Phe331= | |
| NM_001084.5:c.993C>T MANE Select | NP_001075.1:p.Phe331= |