Linked Data
ClinVar Variation Id:
338289
ClinVar RCV Id:
RCV000363016
dbSNP Id:
rs773689812
gnomAD v2:
20-33516450-G-A
gnomAD v3:
20-34928647-G-A
gnomAD v4:
20-34928647-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34928647G>A , CM000682.2:g.34928647G>A | GRCh38 |
| NC_000020.10:g.33516450G>A , CM000682.1:g.33516450G>A | GRCh37 |
| NC_000020.9:g.32980111G>A | NCBI36 |
| NG_008848.1:g.32152C>T | |
| NG_011520.1:g.58706G>A | |
| NG_008848.2:g.32381C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642498.1:c.*539C>T | ENSP00000493631.1:n.*539C>T | |
| ENST00000643188.1:c.*181C>T | ENSP00000493903.1:n.*181C>T | |
| ENST00000643502.1:c.1263C>T | ||
| ENST00000643908.1:n.1824C>T | ||
| ENST00000644793.1:c.*181C>T | ENSP00000495750.1:n.*181C>T | |
| ENST00000645328.1:c.794C>T | ||
| ENST00000645723.1:n.2845C>T | ||
| ENST00000646405.1:c.*1024C>T | ENSP00000493744.1:n.*1024C>T | |
| ENST00000646512.1:n.1752C>T | ||
| ENST00000646735.1:c.*181C>T | ENSP00000493763.1:n.*181C>T | |
| ENST00000651619.1:c.*181C>T MANE Select | ENSP00000498303.1:n.*181C>T | |
| ENST00000216951.6:c.*181C>T | ENSP00000216951.2:n.*181C>T | |
| NM_000178.2:c.*181C>T | NP_000169.1:n.*181C>T | |
| XM_005260406.3:c.*181C>T | XP_005260463.1:n.*181C>T | |
| XM_011528796.1:c.*181C>T | XP_011527098.1:n.*181C>T | |
| NM_000178.4:c.*181C>T MANE Select | NP_000169.1:n.*181C>T | |
| NM_001322494.1:c.*181C>T | NP_001309423.1:n.*181C>T | |
| NM_001322495.1:c.*181C>T | NP_001309424.1:n.*181C>T |