Linked Data
ClinVar Variation Id:
214418
dbSNP Id:
rs755436052
ExAC:
1:241667402 G / A
gnomAD v2:
1-241667402-G-A
gnomAD v3:
1-241504102-G-A
gnomAD v4:
1-241504102-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241504102G>A , CM000663.2:g.241504102G>A | GRCh38 |
| NC_000001.10:g.241667402G>A , CM000663.1:g.241667402G>A | GRCh37 |
| NC_000001.9:g.239734025G>A | NCBI36 |
| NG_012338.1:g.20653C>T , LRG_504:g.20653C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1551C>T | ||
| ENST00000682162.1:c.1077C>T | ENSP00000508203.1:n.1077C>T | |
| ENST00000682567.1:n.1125C>T | ||
| ENST00000683521.1:c.1048C>T | ENSP00000506864.1:p.Arg350Trp | |
| ENST00000684161.1:n.2263C>T | ||
| ENST00000684483.1:c.*444C>T | ENSP00000507894.1:n.*444C>T | |
| ENST00000366560.4:c.1048C>T MANE Select | ENSP00000355518.4:p.Arg350Trp | |
| ENST00000366560.3:c.1048C>T | ENSP00000355518.3:p.Arg350Trp | |
| NM_000143.3:c.1048C>T , LRG_504t1:c.1048C>T | NP_000134.2:p.Arg350Trp | |
| XM_011544132.1:c.820C>T | XP_011542434.1:p.Arg274Trp | |
| XM_011544132.2:c.820C>T | XP_011542434.1:p.Arg274Trp | |
| NM_000143.4:c.1048C>T MANE Select | NP_000134.2:p.Arg350Trp |