| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18790129G>T , CM000681.2:g.18790129G>T | GRCh38 |
| NC_000019.9:g.18900938G>T , CM000681.1:g.18900938G>T | GRCh37 |
| NC_000019.8:g.18761938G>T | NCBI36 |
| NG_007070.1:g.6177C>A |
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.218-15C>A MANE Select | NP_000086.2:n.218-15C>A |
| ENST00000222271.7:c.218-15C>A MANE Select | ENSP00000222271.2:n.218-15C>A |
| NM_000095.2:c.218-15C>A | NP_000086.2:n.218-15C>A |
| ENST00000222271.6:c.218-15C>A | ENSP00000222271.2:n.218-15C>A |
| ENST00000425807.1:c.218-15C>A | ENSP00000403792.1:n.218-15C>A |
| ENST00000542601.6:c.119-15C>A | ENSP00000439156.2:n.119-15C>A |