Linked Data
ClinVar Variation Id:
343477
dbSNP Id:
rs145628302
ExAC:
3:136047622 A / G
gnomAD v2:
3-136047622-A-G
gnomAD v3:
3-136328780-A-G
gnomAD v4:
3-136328780-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136328780A>G , CM000665.2:g.136328780A>G | GRCh38 |
| NC_000003.11:g.136047622A>G , CM000665.1:g.136047622A>G | GRCh37 |
| NC_000003.10:g.137530312A>G | NCBI36 |
| NG_008939.1:g.83456A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251654.9:c.1421A>G MANE Select | ENSP00000251654.4:p.Lys474Arg | |
| ENST00000251654.8:c.1421A>G | ENSP00000251654.4:p.Lys474Arg | |
| ENST00000462637.5:c.1352A>G | ENSP00000420391.1:p.Lys451Arg | |
| ENST00000466072.5:c.1481A>G | ENSP00000420158.1:p.Lys494Arg | |
| ENST00000468777.5:c.1514A>G | ENSP00000419129.1:p.Lys505Arg | |
| ENST00000469217.5:c.1481A>G | ENSP00000419027.1:p.Lys494Arg | |
| ENST00000471595.5:c.1421A>G | ENSP00000417549.1:p.Lys474Arg | |
| ENST00000473073.1:n.1622A>G | ||
| ENST00000478469.5:c.885-5500A>G | ENSP00000420759.1:n.885-5500A>G | |
| ENST00000482086.5:c.1073A>G | ENSP00000417253.1:p.Lys358Arg | |
| ENST00000483687.5:c.1364A>G | ENSP00000420639.1:p.Lys455Arg | |
| ENST00000484181.5:c.*102A>G | ENSP00000417937.1:n.*102A>G | |
| ENST00000490504.5:c.1250A>G | ENSP00000418307.1:p.Lys417Arg | |
| NM_000532.4:c.1421A>G | NP_000523.2:p.Lys474Arg | |
| NM_001178014.1:c.1481A>G | NP_001171485.1:p.Lys494Arg | |
| NM_000532.5:c.1421A>G MANE Select | NP_000523.2:p.Lys474Arg | |
| NM_001178014.2:c.1481A>G | NP_001171485.1:p.Lys494Arg |