Linked Data
dbSNP Id:
rs4360791
gnomAD v2:
13-31318020-G-A
gnomAD v3:
13-30743883-G-A
gnomAD v4:
13-30743883-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30743883G>A , CM000675.2:g.30743883G>A | GRCh38 |
| NC_000013.10:g.31318020G>A , CM000675.1:g.31318020G>A | GRCh37 |
| NC_000013.9:g.30216020G>A | NCBI36 |
| NG_011963.2:g.35406G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380490.5:c.71-177G>A MANE Select | ENSP00000369858.3:n.71-177G>A | |
| ENST00000380490.4:c.71-177G>A | ENSP00000369858.3:n.71-177G>A | |
| ENST00000479597.1:n.211-177G>A | ||
| ENST00000617770.4:c.242-177G>A | ENSP00000479870.1:n.242-177G>A | |
| NM_001204406.1:c.242-177G>A | NP_001191335.1:n.242-177G>A | |
| NM_001629.3:c.71-177G>A | NP_001620.2:n.71-177G>A | |
| XM_011535024.1:c.71-177G>A | XP_011533326.1:n.71-177G>A | |
| NM_001204406.2:c.242-177G>A | NP_001191335.1:n.242-177G>A | |
| NM_001629.4:c.71-177G>A MANE Select | NP_001620.2:n.71-177G>A |