Linked Data
dbSNP Id:
rs780942757
ExAC:
1:230825949 G / A
gnomAD v2:
1-230825949-G-A
gnomAD v3:
1-230690203-G-A
gnomAD v4:
1-230690203-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230690203G>A , CM000663.2:g.230690203G>A | GRCh38 |
| NC_000001.10:g.230825949G>A , CM000663.1:g.230825949G>A | GRCh37 |
| NC_000001.9:g.228892572G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366669.9:c.1934+50G>A MANE Select | ENSP00000355629.4:n.1934+50G>A | |
| ENST00000366668.7:c.1931+50G>A | ENSP00000355628.3:n.1931+50G>A | |
| ENST00000366669.8:c.1934+50G>A | ENSP00000355629.4:n.1934+50G>A | |
| ENST00000468893.6:c.*1792+50G>A | ENSP00000476305.1:n.*1792+50G>A | |
| ENST00000478710.1:n.193+50G>A | ||
| ENST00000490900.1:n.763G>A | ||
| ENST00000534989.1:c.1757+50G>A | ENSP00000440349.1:n.1757+50G>A | |
| NM_001145036.1:c.1931+50G>A | NP_001138508.1:n.1931+50G>A | |
| NM_007357.2:c.1934+50G>A | NP_031383.1:n.1934+50G>A | |
| NM_007357.3:c.1934+50G>A MANE Select | NP_031383.1:n.1934+50G>A | |
| NM_001145036.2:c.1931+50G>A | NP_001138508.1:n.1931+50G>A |