Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66189304C>A , CM000674.2:g.66189304C>A | GRCh38 |
| NC_000012.11:g.66583084C>A , CM000674.1:g.66583084C>A | GRCh37 |
| NC_000012.10:g.64869351C>A | NCBI36 |
| NG_021194.1:g.5107C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261233.9:c.5C>A MANE Select | ENSP00000261233.4:p.Ala2Glu | |
| ENST00000261233.8:c.5C>A | ENSP00000261233.4:p.Ala2Glu | |
| ENST00000457197.2:c.5C>A | ENSP00000409852.2:p.Ala2Glu | |
| ENST00000545837.1:c.5C>A | ENSP00000441321.1:p.Ala2Glu | |
| NM_001142523.1:c.5C>A | NP_001135995.1:p.Ala2Glu | |
| NM_007199.2:c.5C>A | NP_009130.2:p.Ala2Glu | |
| NM_001142523.2:c.5C>A | NP_001135995.1:p.Ala2Glu | |
| NM_007199.3:c.5C>A MANE Select | NP_009130.2:p.Ala2Glu |