Linked Data
ClinVar Variation Id:
1148620
ClinVar RCV Id:
RCV001488575
dbSNP Id:
rs750524280
ExAC:
2:203383583 C / A
gnomAD v2:
2-203383583-C-A
gnomAD v4:
2-202518860-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202518860C>A , CM000664.2:g.202518860C>A | GRCh38 |
| NC_000002.11:g.203383583C>A , CM000664.1:g.203383583C>A | GRCh37 |
| NC_000002.10:g.203091828C>A | NCBI36 |
| NG_009363.1:g.147534C>A , LRG_712:g.147534C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.660C>A MANE Select | ENSP00000363708.4:p.Gly220= | |
| ENST00000638587.1:c.591C>A | ENSP00000491062.1:p.Gly197= | |
| ENST00000374574.2:c.660C>A | ENSP00000363702.2:p.Gly220= | |
| ENST00000374580.8:c.660C>A | ENSP00000363708.4:p.Gly220= | |
| NM_001204.6:c.660C>A , LRG_712t1:c.660C>A | NP_001195.2:p.Gly220= | |
| XM_011511687.1:c.660C>A | XP_011509989.1:p.Gly220= | |
| XM_011511688.1:c.660C>A | XP_011509990.1:p.Gly220= | |
| NM_001204.7:c.660C>A MANE Select | NP_001195.2:p.Gly220= |