Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100665627G>A , CM000685.2:g.100665627G>A | GRCh38 |
| NC_000023.10:g.99920624G>A , CM000685.1:g.99920624G>A | GRCh37 |
| NC_000023.9:g.99807280G>A | NCBI36 |
| NG_021337.1:g.26462G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.751G>A MANE Select | ENSP00000362095.3:p.Ala251Thr | |
| ENST00000638458.1:c.775G>A | ENSP00000492168.1:p.Ala259Thr | |
| ENST00000638920.1:n.754G>A | ||
| ENST00000677630.1:n.685G>A | ||
| ENST00000679590.1:n.784G>A | ||
| ENST00000373004.3:c.751G>A | ENSP00000362095.3:p.Ala251Thr | |
| NM_014467.2:c.751G>A | NP_055282.1:p.Ala251Thr | |
| XM_005262121.2:c.751G>A | XP_005262178.1:p.Ala251Thr | |
| NM_014467.3:c.751G>A MANE Select | NP_055282.1:p.Ala251Thr |