Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102685815C>T , CM000672.2:g.102685815C>T | GRCh38 |
| NC_000010.10:g.104445572C>T , CM000672.1:g.104445572C>T | GRCh37 |
| NC_000010.9:g.104435562C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260746.6:c.501+1G>A MANE Select | ENSP00000260746.4:n.501+1G>A | |
| ENST00000260746.5:c.501+1G>A | ENSP00000260746.4:n.501+1G>A | |
| NM_004311.3:c.501+1G>A | NP_004302.1:n.501+1G>A | |
| XM_017016260.1:c.501+1G>A | XP_016871749.1:n.501+1G>A | |
| NM_004311.4:c.501+1G>A MANE Select | NP_004302.1:n.501+1G>A |