Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133366191A>C , CM000672.2:g.133366191A>C | GRCh38 |
| NC_000010.10:g.135179695A>C , CM000672.1:g.135179695A>C | GRCh37 |
| NC_000010.9:g.135029685A>C | NCBI36 |
| NG_042077.1:g.12214T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.620-96T>G MANE Select | ENSP00000357535.3:n.620-96T>G | |
| ENST00000368547.3:c.620-96T>G | ENSP00000357535.3:n.620-96T>G | |
| NM_004092.3:c.620-96T>G | NP_004083.3:n.620-96T>G | |
| XR_002956965.1:n.1380T>G | ||
| NM_004092.4:c.620-96T>G MANE Select | NP_004083.3:n.620-96T>G |