Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813714C= , CM000671.2:g.129813714C= | GRCh38 |
| NC_000009.11:g.132575993C= , CM000671.1:g.132575993C= | GRCh37 |
| NC_000009.10:g.131615814C= | NCBI36 |
| NG_008049.1:g.15449G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*258G= MANE Select | ENSP00000345719.4:n.*258G= | |
| ENST00000651202.1:c.*525G= | ENSP00000498222.1:n.*525G= | |
| ENST00000351698.4:c.*258G= | ENSP00000345719.4:n.*258G= | |
| ENST00000474192.1:n.841G= | ||
| NM_000113.2:c.*258G= | NP_000104.1:n.*258G= | |
| XR_929731.3:n.1452G= | ||
| NM_000113.3:c.*258G= MANE Select | NP_000104.1:n.*258G= |