ClinVar Variation:
dbSNP:
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110920526C>A , CM000674.2:g.110920526C>A | GRCh38 |
| NC_000012.11:g.111358330C>A , CM000674.1:g.111358330C>A | GRCh37 |
| NC_000012.10:g.109842713C>A | NCBI36 |
| NG_007554.1:g.5052G>T , LRG_393:g.5052G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.3+1G>T MANE Select | ENSP00000228841.8:n.3+1G>T | |
| ENST00000663220.1:c.-55+863G>T | ENSP00000499568.1:n.-55+863G>T | |
| ENST00000228841.12:c.3+1G>T | ENSP00000228841.7:n.3+1G>T | |
| ENST00000546404.1:n.196+1G>T | ||
| ENST00000548438.1:c.3+1G>T | ENSP00000447154.1:n.3+1G>T | |
| NM_000432.3:c.3+1G>T , LRG_393t1:c.3+1G>T | NP_000423.2:n.3+1G>T | |
| NM_000432.4:c.3+1G>T MANE Select | NP_000423.2:n.3+1G>T |