Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61939168G>A , CM000682.2:g.61939168G>A | GRCh38 |
| NC_000020.10:g.60514224G>A , CM000682.1:g.60514224G>A | GRCh37 |
| NC_000020.9:g.59947619G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.*2225G>A MANE Select | ENSP00000484928.1:n.*2225G>A | |
| ENST00000614565.4:c.*2225G>A | ENSP00000484928.1:n.*2225G>A | |
| NM_001252338.2:c.*2225G>A | NP_001239267.1:n.*2225G>A | |
| NM_001252339.2:c.*2225G>A | NP_001239268.1:n.*2225G>A | |
| NM_001794.4:c.*2225G>A | NP_001785.2:n.*2225G>A | |
| NM_001794.5:c.*2225G>A MANE Select | NP_001785.2:n.*2225G>A | |
| NM_001252339.3:c.*2225G>A | NP_001239268.1:n.*2225G>A |