Linked Data
ClinVar Variation Id:
356449
dbSNP Id:
rs779336261
ExAC:
6:35426081 T / G
gnomAD v2:
6-35426081-T-G
gnomAD v3:
6-35458304-T-G
gnomAD v4:
6-35458304-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35458304T>G , CM000668.2:g.35458304T>G | GRCh38 |
| NC_000006.11:g.35426081T>G , CM000668.1:g.35426081T>G | GRCh37 |
| NC_000006.10:g.35534059T>G | NCBI36 |
| NG_011708.1:g.10944T>G , LRG_498:g.10944T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.977T>G | ENSP00000512511.1:p.Leu326Trp | |
| ENST00000696265.1:c.977T>G | ENSP00000512512.1:p.Leu326Trp | |
| ENST00000696266.1:c.626T>G | ENSP00000512513.1:p.Leu209Trp | |
| ENST00000696267.1:n.1244T>G | ||
| ENST00000229769.3:c.977T>G MANE Select | ENSP00000229769.2:p.Leu326Trp | |
| ENST00000648059.1:c.977T>G | ENSP00000497902.1:p.Leu326Trp | |
| ENST00000229769.2:c.977T>G | ENSP00000229769.2:p.Leu326Trp | |
| NM_021922.2:c.977T>G , LRG_498t1:c.977T>G | NP_068741.1:p.Leu326Trp | |
| XM_005248885.2:c.970-14T>G | XP_005248942.1:n.970-14T>G | |
| XM_005248886.2:c.908T>G | XP_005248943.1:p.Leu303Trp | |
| XM_005248887.2:c.977T>G | XP_005248944.1:p.Leu326Trp | |
| XM_005248888.2:c.977T>G | XP_005248945.1:p.Leu326Trp | |
| XM_011514343.1:c.683T>G | XP_011512645.1:p.Leu228Trp | |
| XM_011514344.1:c.683T>G | XP_011512646.1:p.Leu228Trp | |
| XM_005248888.3:c.977T>G | XP_005248945.1:p.Leu326Trp | |
| XM_011514343.2:c.683T>G | XP_011512645.1:p.Leu228Trp | |
| XR_001743226.1:n.1184T>G | ||
| XR_002956267.1:n.1492-14T>G | ||
| NM_021922.3:c.977T>G MANE Select | NP_068741.1:p.Leu326Trp |