Linked Data
ClinVar Variation Id:
897215
dbSNP Id:
rs148640446
ExAC:
20:33519783 G / A
gnomAD v2:
20-33519783-G-A
gnomAD v3:
20-34931980-G-A
gnomAD v4:
20-34931980-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34931980G>A , CM000682.2:g.34931980G>A | GRCh38 |
| NC_000020.10:g.33519783G>A , CM000682.1:g.33519783G>A | GRCh37 |
| NC_000020.9:g.32983444G>A | NCBI36 |
| NG_008848.1:g.28819C>T | |
| NG_008848.2:g.29048C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642498.1:c.988C>T | ENSP00000493631.1:p.Arg330Cys | |
| ENST00000642538.1:c.*332C>T | ENSP00000493927.1:n.*332C>T | |
| ENST00000643188.1:c.988C>T | ENSP00000493903.1:p.Arg330Cys | |
| ENST00000643443.1:c.*695C>T | ENSP00000495572.1:n.*695C>T | |
| ENST00000643502.1:c.645C>T | ||
| ENST00000643908.1:n.1206C>T | ||
| ENST00000644538.1:n.1265C>T | ||
| ENST00000644793.1:c.988C>T | ENSP00000495750.1:p.Arg330Cys | |
| ENST00000645328.1:c.366C>T | ||
| ENST00000645408.1:c.521C>T | ||
| ENST00000645723.1:n.2227C>T | ||
| ENST00000646405.1:c.*406C>T | ENSP00000493744.1:n.*406C>T | |
| ENST00000646512.1:n.1134C>T | ||
| ENST00000646735.1:c.655C>T | ENSP00000493763.1:p.Arg219Cys | |
| ENST00000651619.1:c.988C>T MANE Select | ENSP00000498303.1:p.Arg330Cys | |
| ENST00000216951.6:c.988C>T | ENSP00000216951.2:p.Arg330Cys | |
| ENST00000451957.2:c.655C>T | ENSP00000407517.2:p.Arg219Cys | |
| NM_000178.2:c.988C>T | NP_000169.1:p.Arg330Cys | |
| XM_005260406.3:c.988C>T | XP_005260463.1:p.Arg330Cys | |
| XM_011528796.1:c.988C>T | XP_011527098.1:p.Arg330Cys | |
| NM_000178.4:c.988C>T MANE Select | NP_000169.1:p.Arg330Cys | |
| NM_001322494.1:c.988C>T | NP_001309423.1:p.Arg330Cys | |
| NM_001322495.1:c.988C>T | NP_001309424.1:p.Arg330Cys |