Linked Data
ClinVar Variation Id:
64518
ClinVar RCV Id:
RCV000054705
dbSNP Id:
rs375977483
ExAC:
7:150763671 G / A
gnomAD v2:
7-150763671-G-A
gnomAD v3:
7-151066584-G-A
gnomAD v4:
7-151066584-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151066584G>A , CM000669.2:g.151066584G>A | GRCh38 |
| NC_000007.13:g.150763671G>A , CM000669.1:g.150763671G>A | GRCh37 |
| NC_000007.12:g.150394604G>A | NCBI36 |
| NG_051947.1:g.13385G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413384.7:c.646G>A MANE Select | ENSP00000405600.2:p.Gly216Arg | |
| ENST00000677246.1:c.646G>A | ENSP00000504447.1:p.Gly216Arg | |
| ENST00000310317.9:c.400G>A | ENSP00000311402.5:p.Gly134Arg | |
| ENST00000392826.6:c.619G>A | ENSP00000376571.2:p.Gly207Arg | |
| ENST00000413384.6:c.646G>A | ENSP00000405600.2:p.Gly216Arg | |
| ENST00000461735.1:c.604G>A | ENSP00000419164.1:p.Gly202Arg | |
| ENST00000485713.5:c.646G>A | ENSP00000419412.1:p.Gly216Arg | |
| NM_001199692.1:c.646G>A | NP_001186621.1:p.Gly216Arg | |
| NM_001199693.1:c.619G>A | NP_001186622.1:p.Gly207Arg | |
| NM_001199694.1:c.604G>A | NP_001186623.1:p.Gly202Arg | |
| NM_003040.3:c.646G>A | NP_003031.3:p.Gly216Arg | |
| XM_006716094.2:c.646G>A | XP_006716157.1:p.Gly216Arg | |
| XM_011516497.1:c.646G>A | XP_011514799.1:p.Gly216Arg | |
| NM_001199692.2:c.646G>A | NP_001186621.1:p.Gly216Arg | |
| NM_001199694.2:c.604G>A | NP_001186623.1:p.Gly202Arg | |
| XM_006716094.3:c.646G>A | XP_006716157.1:p.Gly216Arg | |
| NM_003040.4:c.646G>A MANE Select | NP_003031.3:p.Gly216Arg | |
| NM_001199692.3:c.646G>A | NP_001186621.1:p.Gly216Arg |