Linked Data
ClinVar Variation Id:
214417
dbSNP Id:
rs863224003
gnomAD v2:
1-241667485-A-C
gnomAD v4:
1-241504185-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241504185A>C , CM000663.2:g.241504185A>C | GRCh38 |
| NC_000001.10:g.241667485A>C , CM000663.1:g.241667485A>C | GRCh37 |
| NC_000001.9:g.239734108A>C | NCBI36 |
| NG_012338.1:g.20570T>G , LRG_504:g.20570T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000493477.2:n.1468T>G | ||
| ENST00000682162.1:c.994T>G | ENSP00000508203.1:n.994T>G | |
| ENST00000682567.1:n.1042T>G | ||
| ENST00000683521.1:c.965T>G | ENSP00000506864.1:p.Val322Gly | |
| ENST00000684161.1:n.2180T>G | ||
| ENST00000684483.1:c.*361T>G | ENSP00000507894.1:n.*361T>G | |
| ENST00000366560.4:c.965T>G MANE Select | ENSP00000355518.4:p.Val322Gly | |
| ENST00000366560.3:c.965T>G | ENSP00000355518.3:p.Val322Gly | |
| NM_000143.3:c.965T>G , LRG_504t1:c.965T>G | NP_000134.2:p.Val322Gly | |
| XM_011544132.1:c.737T>G | XP_011542434.1:p.Val246Gly | |
| XM_011544132.2:c.737T>G | XP_011542434.1:p.Val246Gly | |
| NM_000143.4:c.965T>G MANE Select | NP_000134.2:p.Val322Gly |