Linked Data
dbSNP Id:
rs374138413
ExAC:
7:5643072 G / A
gnomAD v2:
7-5643072-G-A
gnomAD v3:
7-5603441-G-A
gnomAD v4:
7-5603441-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5603441G>A , CM000669.2:g.5603441G>A | GRCh38 |
| NC_000007.13:g.5643072G>A , CM000669.1:g.5643072G>A | GRCh37 |
| NC_000007.12:g.5609598G>A | NCBI36 |
| NG_030004.1:g.15637G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382361.8:c.989+28G>A MANE Select | ENSP00000371798.3:n.989+28G>A | |
| ENST00000382361.7:c.989+28G>A | ENSP00000371798.3:n.989+28G>A | |
| ENST00000405801.2:c.155+28G>A | ENSP00000383982.2:n.155+28G>A | |
| ENST00000444748.5:c.155+28G>A | ENSP00000404506.1:n.155+28G>A | |
| ENST00000447103.5:c.155+28G>A | ENSP00000409967.1:n.155+28G>A | |
| ENST00000473330.1:n.542+28G>A | ||
| NM_003088.3:c.989+28G>A | NP_003079.1:n.989+28G>A | |
| NM_003088.4:c.989+28G>A MANE Select | NP_003079.1:n.989+28G>A |