Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46413804G>A , CM000663.2:g.46413804G>A | GRCh38 |
| NC_000001.10:g.46879476G>A , CM000663.1:g.46879476G>A | GRCh37 |
| NC_000001.9:g.46652063G>A | NCBI36 |
| NG_012195.1:g.24538G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243167.9:c.*229G>A MANE Select | ENSP00000243167.8:n.*229G>A | |
| ENST00000243167.8:c.*229G>A | ENSP00000243167.8:n.*229G>A | |
| ENST00000484697.5:c.1002G>A | ||
| NM_001441.2:c.*229G>A | NP_001432.2:n.*229G>A | |
| NM_001441.3:c.*229G>A MANE Select | NP_001432.2:n.*229G>A |