Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352069G>A , CM000679.2:g.44352069G>A | GRCh38 |
| NC_000017.10:g.42429437G>A , CM000679.1:g.42429437G>A | GRCh37 |
| NC_000017.9:g.39784963G>A | NCBI36 |
| NG_007886.1:g.11947G>A , LRG_661:g.11947G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1234G>A MANE Select | ENSP00000053867.2:p.Ala412Thr | |
| ENST00000639447.1:c.1136+317G>A | ENSP00000492014.1:n.1136+317G>A | |
| ENST00000053867.7:c.1234G>A | ENSP00000053867.2:p.Ala412Thr | |
| ENST00000586443.1:c.675G>A | ||
| ENST00000589265.5:c.763G>A | ENSP00000467616.1:p.Ala255Thr | |
| NM_002087.3:c.1234G>A | NP_002078.1:p.Ala412Thr | |
| XM_005257253.1:c.1234G>A | XP_005257310.1:p.Ala412Thr | |
| XM_024450730.1:c.1234G>A | XP_024306498.1:p.Ala412Thr | |
| NM_002087.4:c.1234G>A MANE Select | NP_002078.1:p.Ala412Thr |