Linked Data
ClinVar Variation Id:
238943
ClinVar RCV Id:
RCV000229246
dbSNP Id:
rs181785201
ExAC:
7:21818688 G / A
gnomAD v2:
7-21818688-G-A
gnomAD v3:
7-21779070-G-A
gnomAD v4:
7-21779070-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21779070G>A , CM000669.2:g.21779070G>A | GRCh38 |
| NC_000007.13:g.21818688G>A , CM000669.1:g.21818688G>A | GRCh37 |
| NC_000007.12:g.21785213G>A | NCBI36 |
| NG_012886.2:g.240856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.9449G>A MANE Select | ENSP00000475939.1:p.Arg3150Gln | |
| ENST00000328843.10:c.9470G>A | ENSP00000330671.7:p.Arg3157Gln | |
| ENST00000409508.7:c.9449G>A | ENSP00000475939.1:p.Arg3150Gln | |
| ENST00000620169.4:c.9470G>A | ENSP00000481693.1:p.Arg3157Gln | |
| NM_001277115.1:c.9449G>A | NP_001264044.1:p.Arg3150Gln | |
| NM_001277115.2:c.9449G>A MANE Select | NP_001264044.1:p.Arg3150Gln |