Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114796341C>A , CM000671.2:g.114796341C>A | GRCh38 |
| NC_000009.11:g.117558621C>A , CM000671.1:g.117558621C>A | GRCh37 |
| NC_000009.10:g.116598442C>A | NCBI36 |
| NG_011488.2:g.14788G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374045.5:c.211-2773G>T MANE Select | ENSP00000363157.3:n.211-2773G>T | |
| ENST00000374045.4:c.211-2773G>T | ENSP00000363157.3:n.211-2773G>T | |
| NM_005118.3:c.211-2773G>T | NP_005109.2:n.211-2773G>T | |
| NM_005118.4:c.211-2773G>T MANE Select | NP_005109.2:n.211-2773G>T |