Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151253271G>A , CM000667.2:g.151253271G>A | GRCh38 |
| NC_000005.9:g.150632832G>A , CM000667.1:g.150632832G>A | GRCh37 |
| NC_000005.8:g.150613025G>A | NCBI36 |
| NG_009059.1:g.5220G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.55G>A MANE Select | ENSP00000349687.3:p.Ala19Thr | |
| ENST00000357164.3:c.55G>A | ENSP00000349687.3:p.Ala19Thr | |
| ENST00000523466.5:c.127-6484G>A | ENSP00000429100.1:n.127-6484G>A | |
| NM_000405.4:c.55G>A | NP_000396.2:p.Ala19Thr | |
| NM_001167607.1:c.55G>A | NP_001161079.1:p.Ala19Thr | |
| NM_000405.5:c.55G>A MANE Select | NP_000396.2:p.Ala19Thr | |
| NM_001167607.2:c.55G>A | NP_001161079.1:p.Ala19Thr | |
| NM_001167607.3:c.55G>A | NP_001161079.1:p.Ala19Thr |