Linked Data
ClinVar Variation Id:
359603
ClinVar RCV Id:
RCV000355707
dbSNP Id:
rs776924184
ExAC:
7:21603991 G / A
gnomAD v2:
7-21603991-G-A
gnomAD v3:
7-21564373-G-A
gnomAD v4:
7-21564373-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21564373G>A , CM000669.2:g.21564373G>A | GRCh38 |
| NC_000007.13:g.21603991G>A , CM000669.1:g.21603991G>A | GRCh37 |
| NC_000007.12:g.21570516G>A | NCBI36 |
| NG_012886.2:g.26159G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.1170G>A MANE Select | ENSP00000475939.1:p.Glu390= | |
| ENST00000328843.10:c.1170G>A | ENSP00000330671.7:p.Glu390= | |
| ENST00000409508.7:c.1170G>A | ENSP00000475939.1:p.Glu390= | |
| ENST00000496218.1:n.80+3203G>A | ||
| ENST00000620169.4:c.1170G>A | ENSP00000481693.1:p.Glu390= | |
| NM_001277115.1:c.1170G>A | NP_001264044.1:p.Glu390= | |
| XR_927090.1:n.564-4133C>T | ||
| XR_001745114.1:n.2794-4133C>T | ||
| NM_001277115.2:c.1170G>A MANE Select | NP_001264044.1:p.Glu390= |