Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125272C>T , CM000666.2:g.55125272C>T | GRCh38 |
| NC_000004.11:g.55991439C>T , CM000666.1:g.55991439C>T | GRCh37 |
| NC_000004.10:g.55686196C>T | NCBI36 |
| NG_012004.1:g.5324G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.22G>A MANE Select | ENSP00000263923.4:p.Ala8Thr | |
| ENST00000263923.4:c.22G>A | ENSP00000263923.4:p.Ala8Thr | |
| ENST00000512566.1:n.22G>A | ||
| NM_002253.2:c.22G>A | NP_002244.1:p.Ala8Thr | |
| NM_002253.3:c.22G>A | NP_002244.1:p.Ala8Thr | |
| NM_002253.4:c.22G>A MANE Select | NP_002244.1:p.Ala8Thr |