Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529051C>A , CM000681.2:g.7529051C>A | GRCh38 |
| NC_000019.9:g.7593937C>A , CM000681.1:g.7593937C>A | GRCh37 |
| NC_000019.8:g.7499937C>A | NCBI36 |
| NG_015806.1:g.11442C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1135-50C>A MANE Select | ENSP00000264079.5:n.1135-50C>A | |
| ENST00000264079.10:c.1135-50C>A | ENSP00000264079.5:n.1135-50C>A | |
| ENST00000394321.9:n.1450-50C>A | ||
| ENST00000594692.1:n.81C>A | ||
| ENST00000595860.5:n.318-50C>A | ||
| ENST00000599334.1:c.12-50C>A | ||
| NM_020533.2:c.1135-50C>A | NP_065394.1:n.1135-50C>A | |
| NM_020533.3:c.1135-50C>A MANE Select | NP_065394.1:n.1135-50C>A |