Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053459T>A , CM000664.2:g.223053459T>A | GRCh38 |
| NC_000002.11:g.223918177T>A , CM000664.1:g.223918177T>A | GRCh37 |
| NC_000002.10:g.223626421T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.*116T>A MANE Select | ENSP00000281830.5:n.*116T>A | |
| ENST00000281830.3:c.*116T>A | ENSP00000281830.4:n.*116T>A | |
| ENST00000488477.2:n.75+1185T>A | ||
| NM_080671.3:c.*116T>A | NP_542402.3:n.*116T>A | |
| NM_080671.4:c.*116T>A MANE Select | NP_542402.4:n.*116T>A |