Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533996C>G , CM000681.2:g.7533996C>G | GRCh38 |
| NC_000019.9:g.7598882C>G , CM000681.1:g.7598882C>G | GRCh37 |
| NC_000019.8:g.7504882C>G | NCBI36 |
| NG_013374.1:g.4845C>G | |
| NG_015806.1:g.16387C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*201C>G MANE Select | ENSP00000264079.5:n.*201C>G | |
| ENST00000264079.10:c.*201C>G | ENSP00000264079.5:n.*201C>G | |
| ENST00000601870.1:c.169+128C>G | ||
| NM_020533.2:c.*201C>G | NP_065394.1:n.*201C>G | |
| NM_020533.3:c.*201C>G MANE Select | NP_065394.1:n.*201C>G |