Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882306G>T , CM000663.2:g.160882306G>T | GRCh38 |
| NC_000001.10:g.160852096G>T , CM000663.1:g.160852096G>T | GRCh37 |
| NC_000001.9:g.159118720G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326245.4:c.158-102C>A MANE Select | ENSP00000323587.3:n.158-102C>A | |
| ENST00000326245.3:c.158-102C>A | ENSP00000323587.3:n.158-102C>A | |
| NM_017625.2:c.158-102C>A | NP_060095.2:n.158-102C>A | |
| NM_017625.3:c.158-102C>A MANE Select | NP_060095.2:n.158-102C>A |