Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016836G>T , CM000681.2:g.49016836G>T | GRCh38 |
| NC_000019.9:g.49520093G>T , CM000681.1:g.49520093G>T | GRCh37 |
| NC_000019.8:g.54211905G>T | NCBI36 |
| NG_011464.1:g.5255C>A | |
| NG_033041.1:g.27938G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000894.3:c.16-122C>A MANE Select | NP_000885.1:n.16-122C>A |
| ENST00000649238.3:c.16-122C>A MANE Select | ENSP00000497294.2:n.16-122C>A |
| NM_000894.2:c.16-122C>A | NP_000885.1:n.16-122C>A |
| ENST00000221421.6:c.16-122C>A | ENSP00000221421.1:n.16-122C>A |
| ENST00000391869.4:c.10-122C>A | ENSP00000375742.4:n.10-122C>A |