Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533810C>G , CM000681.2:g.7533810C>G | GRCh38 |
| NC_000019.9:g.7598696C>G , CM000681.1:g.7598696C>G | GRCh37 |
| NC_000019.8:g.7504696C>G | NCBI36 |
| NG_013374.1:g.4659C>G | |
| NG_015806.1:g.16201C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*15C>G MANE Select | ENSP00000264079.5:n.*15C>G | |
| ENST00000264079.10:c.*15C>G | ENSP00000264079.5:n.*15C>G | |
| ENST00000394321.9:n.2073C>G | ||
| ENST00000599334.1:c.486C>G | ||
| ENST00000601870.1:c.111C>G | ||
| ENST00000602227.1:n.312C>G | ||
| NM_020533.2:c.*15C>G | NP_065394.1:n.*15C>G | |
| NM_020533.3:c.*15C>G MANE Select | NP_065394.1:n.*15C>G |