Linked Data
ClinVar Variation Id:
2248904
ClinVar RCV Id:
RCV004113083
dbSNP Id:
rs780061624
ExAC:
17:649319 A / C
gnomAD v2:
17-649319-A-C
gnomAD v3:
17-746079-A-C
gnomAD v4:
17-746079-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.746079A>C , CM000679.2:g.746079A>C | GRCh38 |
| NC_000017.10:g.649319A>C , CM000679.1:g.649319A>C | GRCh37 |
| NC_000017.9:g.596069A>C | NCBI36 |
| NG_046938.1:g.11794T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319004.6:c.1964T>G MANE Select | ENSP00000321706.5:p.Phe655Cys | |
| ENST00000319004.5:c.1964T>G | ENSP00000321706.5:p.Phe655Cys | |
| ENST00000576778.1:c.1931T>G | ENSP00000459565.1:p.Phe644Cys | |
| NM_015721.2:c.1964T>G | NP_056536.2:p.Phe655Cys | |
| XM_005256667.3:c.1976T>G | XP_005256724.1:p.Phe659Cys | |
| XM_005256668.3:c.1976T>G | XP_005256725.1:p.Phe659Cys | |
| XM_005256670.3:c.1931T>G | XP_005256727.1:p.Phe644Cys | |
| XM_011523910.1:c.1976T>G | XP_011522212.1:p.Phe659Cys | |
| XM_011523911.1:c.1976T>G | XP_011522213.1:p.Phe659Cys | |
| XM_011523912.1:c.1931T>G | XP_011522214.1:p.Phe644Cys | |
| XM_011523913.1:c.1931T>G | XP_011522215.1:p.Phe644Cys | |
| XM_005256667.4:c.1976T>G | XP_005256724.1:p.Phe659Cys | |
| XM_005256670.5:c.1931T>G | XP_005256727.1:p.Phe644Cys | |
| XM_011523910.2:c.1976T>G | XP_011522212.1:p.Phe659Cys | |
| XM_011523911.2:c.1976T>G | XP_011522213.1:p.Phe659Cys | |
| XM_011523912.2:c.1931T>G | XP_011522214.1:p.Phe644Cys | |
| XM_011523913.2:c.1931T>G | XP_011522215.1:p.Phe644Cys | |
| XM_017024709.1:c.1976T>G | XP_016880198.1:p.Phe659Cys | |
| NM_015721.3:c.1964T>G MANE Select | NP_056536.2:p.Phe655Cys |