Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41219505G>A , CM000681.2:g.41219505G>A | GRCh38 |
| NC_000019.9:g.41725410G>A , CM000681.1:g.41725410G>A | GRCh37 |
| NC_000019.8:g.46417250G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021913.5:c.85+28G>A MANE Select | NP_068713.2:n.85+28G>A |
| ENST00000301178.9:c.85+28G>A MANE Select | ENSP00000301178.3:n.85+28G>A |
| NM_001699.5:c.85+28G>A | NP_001690.2:n.85+28G>A |
| NM_001699.6:c.85+28G>A | NP_001690.2:n.85+28G>A |
| NM_021913.4:c.85+28G>A | NP_068713.2:n.85+28G>A |
| ENST00000301178.8:c.85+28G>A | ENSP00000301178.3:n.85+28G>A |
| ENST00000359092.7:c.85+28G>A | ENSP00000351995.2:n.85+28G>A |
| ENST00000599659.5:n.99+28G>A |