Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045742C>A , CM000674.2:g.5045742C>A | GRCh38 |
| NC_000012.11:g.5154908C>A , CM000674.1:g.5154908C>A | GRCh37 |
| NC_000012.10:g.5025169C>A | NCBI36 |
| NG_012198.1:g.6824C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002234.4:c.1595C>A MANE Select | NP_002225.2:p.Pro532Gln |
| ENST00000252321.5:c.1595C>A MANE Select | ENSP00000252321.3:p.Pro532Gln |
| NM_002234.3:c.1595C>A | NP_002225.2:p.Pro532Gln |
| ENST00000252321.4:c.1595C>A | ENSP00000252321.3:p.Pro532Gln |