Linked Data
dbSNP Id:
rs6971091
ExAC:
7:128363287 G / A
gnomAD v2:
7-128363287-G-A
gnomAD v3:
7-128723233-G-A
gnomAD v4:
7-128723233-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128723233G>A , CM000669.2:g.128723233G>A | GRCh38 |
| NC_000007.13:g.128363287G>A , CM000669.1:g.128363287G>A | GRCh37 |
| NC_000007.12:g.128150523G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000621392.5:c.724G>A MANE Select | ENSP00000477573.2:p.Glu242Lys | |
| ENST00000315184.9:c.724G>A | ENSP00000326652.4:p.Glu242Lys | |
| ENST00000466842.1:c.292G>A | ENSP00000417930.1:p.Glu98Lys | |
| ENST00000469348.5:n.583G>A | ||
| ENST00000471558.5:c.724G>A | ENSP00000418672.1:p.Glu242Lys | |
| ENST00000484425.6:c.295G>A | ENSP00000418591.2:p.Glu99Lys | |
| ENST00000485070.5:c.427G>A | ENSP00000418192.1:p.Glu143Lys | |
| ENST00000493738.5:n.680G>A | ||
| ENST00000621392.4:c.427G>A | ENSP00000477573.1:p.Glu143Lys | |
| NM_001282788.1:c.724G>A | NP_001269717.1:p.Glu242Lys | |
| NM_001282789.1:c.427G>A | NP_001269718.1:p.Glu143Lys | |
| NM_032599.3:c.724G>A | NP_115988.1:p.Glu242Lys | |
| NR_104242.1:n.824G>A | ||
| NR_104243.1:n.713G>A | ||
| XM_017012743.2:c.724G>A | XP_016868232.1:p.Glu242Lys | |
| XR_002956499.1:n.775G>A | ||
| NM_001282788.2:c.724G>A | NP_001269717.1:p.Glu242Lys | |
| NM_001282789.2:c.427G>A | NP_001269718.1:p.Glu143Lys | |
| NM_032599.4:c.724G>A | NP_115988.1:p.Glu242Lys | |
| NR_104242.2:n.775G>A | ||
| NR_104243.2:n.713G>A | ||
| NM_001282788.3:c.724G>A MANE Select | NP_001269717.1:p.Glu242Lys |