Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151206335C>T , CM000667.2:g.151206335C>T | GRCh38 |
| NC_000005.9:g.150585896C>T , CM000667.1:g.150585896C>T | GRCh37 |
| NC_000005.8:g.150566089C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355417.7:c.49-860G>A MANE Select | ENSP00000347586.2:n.49-860G>A | |
| ENST00000355417.6:c.49-860G>A | ENSP00000347586.2:n.49-860G>A | |
| ENST00000521308.5:n.172-4647G>A | ||
| ENST00000522179.1:n.491-860G>A | ||
| NM_015621.2:c.49-860G>A | NP_056436.2:n.49-860G>A | |
| NM_015621.3:c.49-860G>A MANE Select | NP_056436.2:n.49-860G>A |