Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63895246C>G , CM000682.2:g.63895246C>G | GRCh38 |
| NC_000020.10:g.62526599C>G , CM000682.1:g.62526599C>G | GRCh37 |
| NC_000020.9:g.61997043C>G | NCBI36 |
| NG_029805.1:g.5145C>G | |
| NG_029805.2:g.5145C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360864.9:c.-89C>G MANE Select | ENSP00000354111.4:n.-89C>G | |
| ENST00000360864.8:c.-89C>G | ENSP00000354111.4:n.-89C>G | |
| ENST00000470551.1:c.-89C>G | ENSP00000434744.1:n.-89C>G | |
| NM_025219.2:c.-89C>G | NP_079495.1:n.-89C>G | |
| NM_025219.3:c.-89C>G MANE Select | NP_079495.1:n.-89C>G |