Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016960C>T , CM000681.2:g.49016960C>T | GRCh38 |
| NC_000019.9:g.49520217C>T , CM000681.1:g.49520217C>T | GRCh37 |
| NC_000019.8:g.54212029C>T | NCBI36 |
| NG_011464.1:g.5131G>A | |
| NG_033041.1:g.28062C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000894.3:c.15+107G>A MANE Select | NP_000885.1:n.15+107G>A |
| ENST00000649238.3:c.15+107G>A MANE Select | ENSP00000497294.2:n.15+107G>A |
| NM_000894.2:c.15+107G>A | NP_000885.1:n.15+107G>A |
| ENST00000221421.6:c.15+107G>A | ENSP00000221421.1:n.15+107G>A |
| ENST00000391869.4:c.9+107G>A | ENSP00000375742.4:n.9+107G>A |