Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33068752G>A , CM000668.2:g.33068752G>A | GRCh38 |
| NC_000006.11:g.33036529G>A , CM000668.1:g.33036529G>A | GRCh37 |
| NC_000006.10:g.33144507G>A | NCBI36 |
| NG_033241.1:g.17027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692443.1:c.681C>T MANE Select | ENSP00000509163.1:p.Ala227= | |
| ENST00000419277.5:c.681C>T | ENSP00000393566.1:p.Ala227= | |
| ENST00000437811.1:c.283C>T | ||
| ENST00000479107.1:n.1280C>T | ||
| NM_001242524.1:c.681C>T | NP_001229453.1:p.Ala227= | |
| NM_001242525.1:c.681C>T | NP_001229454.1:p.Ala227= | |
| NM_033554.3:c.681C>T | NP_291032.2:p.Ala227= | |
| XM_011514559.1:c.628+267C>T | XP_011512861.1:n.628+267C>T | |
| NM_001242524.2:c.681C>T | NP_001229453.1:p.Ala227= | |
| NM_001242525.2:c.681C>T | NP_001229454.1:p.Ala227= |