Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945684C>A , CM000671.2:g.128945684C>A | GRCh38 |
| NC_000009.11:g.131707963C>A , CM000671.1:g.131707963C>A | GRCh37 |
| NC_000009.10:g.130747784C>A | NCBI36 |
| NG_017009.1:g.7050G>T , LRG_744:g.7050G>T | |
| NG_033111.1:g.2992C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.*3G>T MANE Select | ENSP00000361667.3:n.*3G>T | |
| ENST00000372586.3:c.*3G>T | ENSP00000361667.3:n.*3G>T | |
| ENST00000482796.1:c.39-3505C>A | ENSP00000417556.2:n.39-3505C>A | |
| NM_014908.3:c.*3G>T , LRG_744t1:c.*3G>T | NP_055723.1:n.*3G>T | |
| NM_014908.4:c.*3G>T MANE Select | NP_055723.1:n.*3G>T |