Linked Data
ClinVar Variation Id:
338291
ClinVar RCV Id:
RCV000313996
dbSNP Id:
rs200882573
gnomAD v2:
20-33516562-C-A
gnomAD v3:
20-34928759-C-A
gnomAD v4:
20-34928759-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34928759C>A , CM000682.2:g.34928759C>A | GRCh38 |
| NC_000020.10:g.33516562C>A , CM000682.1:g.33516562C>A | GRCh37 |
| NC_000020.9:g.32980223C>A | NCBI36 |
| NG_008848.1:g.32040G>T | |
| NG_011520.1:g.58818C>A | |
| NG_008848.2:g.32269G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642498.1:c.*427G>T | ENSP00000493631.1:n.*427G>T | |
| ENST00000643188.1:c.*69G>T | ENSP00000493903.1:n.*69G>T | |
| ENST00000643502.1:c.1151G>T | ||
| ENST00000643908.1:n.1712G>T | ||
| ENST00000644538.1:n.1771G>T | ||
| ENST00000644793.1:c.*69G>T | ENSP00000495750.1:n.*69G>T | |
| ENST00000645328.1:c.682G>T | ||
| ENST00000645723.1:n.2733G>T | ||
| ENST00000646405.1:c.*912G>T | ENSP00000493744.1:n.*912G>T | |
| ENST00000646512.1:n.1640G>T | ||
| ENST00000646735.1:c.*69G>T | ENSP00000493763.1:n.*69G>T | |
| ENST00000651619.1:c.*69G>T MANE Select | ENSP00000498303.1:n.*69G>T | |
| ENST00000216951.6:c.*69G>T | ENSP00000216951.2:n.*69G>T | |
| NM_000178.2:c.*69G>T | NP_000169.1:n.*69G>T | |
| XM_005260406.3:c.*69G>T | XP_005260463.1:n.*69G>T | |
| XM_011528796.1:c.*69G>T | XP_011527098.1:n.*69G>T | |
| NM_000178.4:c.*69G>T MANE Select | NP_000169.1:n.*69G>T | |
| NM_001322494.1:c.*69G>T | NP_001309423.1:n.*69G>T | |
| NM_001322495.1:c.*69G>T | NP_001309424.1:n.*69G>T |