Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750384C>T , CM000684.2:g.27750384C>T | GRCh38 |
| NC_000022.10:g.28146372C>T , CM000684.1:g.28146372C>T | GRCh37 |
| NC_000022.9:g.26476372C>T | NCBI36 |
| NG_023258.1:g.56115G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.1019G>A | ||
| ENST00000302326.5:c.*531G>A MANE Select | ENSP00000304956.4:n.*531G>A | |
| ENST00000302326.4:c.*531G>A | ENSP00000304956.4:n.*531G>A | |
| ENST00000424656.1:c.456-156G>A | ||
| NM_002430.2:c.*531G>A | NP_002421.3:n.*531G>A | |
| NM_002430.3:c.*531G>A MANE Select | NP_002421.3:n.*531G>A |