Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951580C>A , CM000670.2:g.19951580C>A | GRCh38 |
| NC_000008.10:g.19809091C>A , CM000670.1:g.19809091C>A | GRCh37 |
| NC_000008.9:g.19853371C>A | NCBI36 |
| NG_008855.1:g.17510C>A | |
| NG_008855.2:g.54864C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.250-189C>A MANE Select | ENSP00000497642.1:n.250-189C>A | |
| ENST00000311322.8:c.250-189C>A | ENSP00000309757.6:n.250-189C>A | |
| ENST00000520959.5:c.22-189C>A | ENSP00000428496.1:n.22-189C>A | |
| ENST00000521994.1:n.435-117C>A | ||
| ENST00000522701.5:c.250-189C>A | ENSP00000428557.1:n.250-189C>A | |
| ENST00000524029.5:c.250-189C>A | ENSP00000428237.1:n.250-189C>A | |
| NM_000237.2:c.250-189C>A | NP_000228.1:n.250-189C>A | |
| NM_000237.3:c.250-189C>A MANE Select | NP_000228.1:n.250-189C>A |