Linked Data
dbSNP Id:
rs749510898
ExAC:
7:128363288 A / G
gnomAD v2:
7-128363288-A-G
gnomAD v3:
7-128723234-A-G
gnomAD v4:
7-128723234-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128723234A>G , CM000669.2:g.128723234A>G | GRCh38 |
| NC_000007.13:g.128363288A>G , CM000669.1:g.128363288A>G | GRCh37 |
| NC_000007.12:g.128150524A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000621392.5:c.725A>G MANE Select | ENSP00000477573.2:p.Glu242Gly | |
| ENST00000315184.9:c.725A>G | ENSP00000326652.4:p.Glu242Gly | |
| ENST00000466842.1:c.293A>G | ENSP00000417930.1:p.Glu98Gly | |
| ENST00000469348.5:n.584A>G | ||
| ENST00000471558.5:c.725A>G | ENSP00000418672.1:p.Glu242Gly | |
| ENST00000484425.6:c.296A>G | ENSP00000418591.2:p.Glu99Gly | |
| ENST00000485070.5:c.428A>G | ENSP00000418192.1:p.Glu143Gly | |
| ENST00000493738.5:n.681A>G | ||
| ENST00000621392.4:c.428A>G | ENSP00000477573.1:p.Glu143Gly | |
| NM_001282788.1:c.725A>G | NP_001269717.1:p.Glu242Gly | |
| NM_001282789.1:c.428A>G | NP_001269718.1:p.Glu143Gly | |
| NM_032599.3:c.725A>G | NP_115988.1:p.Glu242Gly | |
| NR_104242.1:n.825A>G | ||
| NR_104243.1:n.714A>G | ||
| XM_017012743.2:c.725A>G | XP_016868232.1:p.Glu242Gly | |
| XR_002956499.1:n.776A>G | ||
| NM_001282788.2:c.725A>G | NP_001269717.1:p.Glu242Gly | |
| NM_001282789.2:c.428A>G | NP_001269718.1:p.Glu143Gly | |
| NM_032599.4:c.725A>G | NP_115988.1:p.Glu242Gly | |
| NR_104242.2:n.776A>G | ||
| NR_104243.2:n.714A>G | ||
| NM_001282788.3:c.725A>G MANE Select | NP_001269717.1:p.Glu242Gly |