Linked Data
ClinVar Variation Id:
2856262
ClinVar RCV Id:
RCV003696350
dbSNP Id:
rs1935960253
gnomAD v3:
3-138946071-A-C
gnomAD v4:
3-138946071-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946071A>C , CM000665.2:g.138946071A>C | GRCh38 |
| NC_000003.11:g.138664913A>C , CM000665.1:g.138664913A>C | GRCh37 |
| NC_000003.10:g.140147603A>C | NCBI36 |
| NG_012454.1:g.6070T>G | |
| NG_029796.1:g.3838A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648323.1:c.652T>G MANE Select | ENSP00000497217.1:p.Cys218Gly | |
| ENST00000330315.3:c.652T>G | ENSP00000333188.3:p.Cys218Gly | |
| NM_023067.3:c.652T>G | NP_075555.1:p.Cys218Gly | |
| NM_023067.4:c.652T>G MANE Select | NP_075555.1:p.Cys218Gly |