Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285498A>T , CM000681.2:g.40285498A>T | GRCh38 |
| NC_000019.9:g.40791405A>T , CM000681.1:g.40791405A>T | GRCh37 |
| NC_000019.8:g.45483245A>T | NCBI36 |
| NG_012038.2:g.4861T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000578123.5:c.-135T>A | ENSP00000462022.1:n.-135T>A | |
| XM_011526620.1:c.-135T>A | XP_011524922.1:n.-135T>A |