gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110911176C>A , CM000674.2:g.110911176C>A | GRCh38 |
| NC_000012.11:g.111348980C>A , CM000674.1:g.111348980C>A | GRCh37 |
| NC_000012.10:g.109833363C>A | NCBI36 |
| NG_007554.1:g.14402G>T , LRG_393:g.14402G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.403-1G>T MANE Select | ENSP00000228841.8:n.403-1G>T | |
| ENST00000663220.1:c.346-1G>T | ENSP00000499568.1:n.346-1G>T | |
| ENST00000228841.12:c.403-1G>T | ENSP00000228841.7:n.403-1G>T | |
| ENST00000548438.1:c.361-1G>T | ENSP00000447154.1:n.361-1G>T | |
| NM_000432.3:c.403-1G>T , LRG_393t1:c.403-1G>T | NP_000423.2:n.403-1G>T | |
| NM_000432.4:c.403-1G>T MANE Select | NP_000423.2:n.403-1G>T |