Linked Data
ClinVar Variation Id:
1699803
ClinVar RCV Id:
RCV002273660
dbSNP Id:
rs74162081
gnomAD v4:
2-162282389-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162282389T>C , CM000664.2:g.162282389T>C | GRCh38 |
| NC_000002.11:g.163138899T>C , CM000664.1:g.163138899T>C | GRCh37 |
| NC_000002.10:g.162847145T>C | NCBI36 |
| NG_011495.1:g.41141A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*880A>G | ENSP00000513228.1:n.*880A>G | |
| ENST00000648433.1:c.1283A>G | ENSP00000496816.1:p.Glu428Gly | |
| ENST00000649554.1:n.893A>G | ||
| ENST00000649979.2:c.1283A>G MANE Select | ENSP00000497271.1:p.Glu428Gly | |
| ENST00000679938.1:c.971A>G | ENSP00000505518.1:p.Glu324Gly | |
| ENST00000263642.2:c.1283A>G | ENSP00000263642.2:p.Glu428Gly | |
| NM_022168.3:c.1283A>G | NP_071451.2:p.Glu428Gly | |
| XM_011511628.1:c.566A>G | XP_011509930.1:p.Glu189Gly | |
| XM_011511629.1:c.1283A>G | XP_011509931.1:p.Glu428Gly | |
| NM_022168.4:c.1283A>G MANE Select | NP_071451.2:p.Glu428Gly |