Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110162443C>T , CM000675.2:g.110162443C>T | GRCh38 |
| NC_000013.10:g.110814790C>T , CM000675.1:g.110814790C>T | GRCh37 |
| NC_000013.9:g.109612791C>T | NCBI36 |
| NG_011544.2:g.149707G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.4250-1G>A MANE Select | NP_001836.3:n.4250-1G>A |
| ENST00000375820.10:c.4250-1G>A MANE Select | ENSP00000364979.4:n.4250-1G>A |
| NM_001845.5:c.4250-1G>A | NP_001836.3:n.4250-1G>A |
| ENST00000375820.8:c.4250-1G>A | ENSP00000364979.4:n.4250-1G>A |
| ENST00000467182.1:n.29-1G>A | |
| ENST00000474391.1:n.97-1G>A | |
| ENST00000649720.1:n.418-1G>A | |
| ENST00000650424.1:c.406-1G>A | |
| XM_011521048.1:c.4058-1G>A | XP_011519350.1:n.4058-1G>A |
| XM_011521048.2:c.4058-1G>A | XP_011519350.1:n.4058-1G>A |