Linked Data
ClinVar Variation Id:
359601
ClinVar RCV Id:
RCV000391812
dbSNP Id:
rs201934527
ExAC:
7:21600697 A / G
gnomAD v2:
7-21600697-A-G
gnomAD v3:
7-21561079-A-G
gnomAD v4:
7-21561079-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21561079A>G , CM000669.2:g.21561079A>G | GRCh38 |
| NC_000007.13:g.21600697A>G , CM000669.1:g.21600697A>G | GRCh37 |
| NC_000007.12:g.21567222A>G | NCBI36 |
| NG_012886.2:g.22865A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.891A>G MANE Select | ENSP00000475939.1:p.Ala297= | |
| ENST00000328843.10:c.891A>G | ENSP00000330671.7:p.Ala297= | |
| ENST00000409508.7:c.891A>G | ENSP00000475939.1:p.Ala297= | |
| ENST00000483691.1:n.87A>G | ||
| ENST00000620169.4:c.891A>G | ENSP00000481693.1:p.Ala297= | |
| NM_001277115.1:c.891A>G | NP_001264044.1:p.Ala297= | |
| XR_927090.1:n.564-839T>C | ||
| XR_001745114.1:n.2794-839T>C | ||
| NM_001277115.2:c.891A>G MANE Select | NP_001264044.1:p.Ala297= |