Linked Data
ClinVar Variation Id:
295732
dbSNP Id:
rs372760688
ExAC:
1:22161274 C / T
gnomAD v2:
1-22161274-C-T
gnomAD v3:
1-21834781-C-T
gnomAD v4:
1-21834781-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21834781C>T , CM000663.2:g.21834781C>T | GRCh38 |
| NC_000001.10:g.22161274C>T , CM000663.1:g.22161274C>T | GRCh37 |
| NC_000001.9:g.22033861C>T | NCBI36 |
| NG_016740.1:g.107477G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.10618G>A MANE Select | ENSP00000363827.3:p.Val3540Ile | |
| ENST00000374695.7:c.10618G>A | ENSP00000363827.3:p.Val3540Ile | |
| ENST00000471322.2:n.973G>A | ||
| NM_001291860.1:c.10621G>A | NP_001278789.1:p.Val3541Ile | |
| NM_005529.6:c.10618G>A | NP_005520.4:p.Val3540Ile | |
| XM_006710594.2:c.11164G>A | XP_006710657.1:p.Val3722Ile | |
| XM_006710595.2:c.11116G>A | XP_006710658.1:p.Val3706Ile | |
| XM_006710596.2:c.11095G>A | XP_006710659.1:p.Val3699Ile | |
| XM_006710597.2:c.10618G>A | XP_006710660.1:p.Val3540Ile | |
| XM_011541317.1:c.11167G>A | XP_011539619.1:p.Val3723Ile | |
| XM_011541318.1:c.11167G>A | XP_011539620.1:p.Val3723Ile | |
| XM_011541319.1:c.11167G>A | XP_011539621.1:p.Val3723Ile | |
| XM_011541320.1:c.10888G>A | XP_011539622.1:p.Val3630Ile | |
| XM_011541321.1:c.10672G>A | XP_011539623.1:p.Val3558Ile | |
| XM_011541318.2:c.11167G>A | XP_011539620.1:p.Val3723Ile | |
| XM_017001120.1:c.10813G>A | XP_016856609.1:p.Val3605Ile | |
| XM_017001121.1:c.10762G>A | XP_016856610.1:p.Val3588Ile | |
| XM_017001122.1:c.10759G>A | XP_016856611.1:p.Val3587Ile | |
| NM_005529.7:c.10618G>A MANE Select | NP_005520.4:p.Val3540Ile | |
| NM_001291860.2:c.10621G>A | NP_001278789.1:p.Val3541Ile |