Linked Data
ClinVar Variation Id:
1381250
ClinVar RCV Id:
RCV001921907
dbSNP Id:
rs757153964
ExAC:
19:11311401 A / C
gnomAD v2:
19-11311401-A-C
gnomAD v4:
19-11200725-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11200725A>C , CM000681.2:g.11200725A>C | GRCh38 |
| NC_000019.9:g.11311401A>C , CM000681.1:g.11311401A>C | GRCh37 |
| NC_000019.8:g.11172401A>C | NCBI36 |
| NG_031953.1:g.66768T>G | |
| NG_051186.1:g.1843T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.6035T>G | ENSP00000468638.2:p.Phe2012Cys | |
| ENST00000294618.12:c.5930T>G MANE Select | ENSP00000294618.6:p.Phe1977Cys | |
| ENST00000294618.11:c.5930T>G | ENSP00000294618.6:p.Phe1977Cys | |
| ENST00000586702.1:n.833T>G | ||
| ENST00000587656.5:c.3795T>G | ||
| ENST00000587734.1:c.75+1164T>G | ENSP00000468291.1:n.75+1164T>G | |
| NM_020812.3:c.5930T>G | NP_065863.2:p.Phe1977Cys | |
| XM_005260000.2:c.6128T>G | XP_005260057.1:p.Phe2043Cys | |
| XM_005260001.2:c.6035T>G | XP_005260058.1:p.Phe2012Cys | |
| XM_006722804.2:c.3266T>G | XP_006722867.1:p.Phe1089Cys | |
| XM_011528150.1:c.6068T>G | XP_011526452.1:p.Phe2023Cys | |
| XM_011528151.1:c.6056T>G | XP_011526453.1:p.Phe2019Cys | |
| XM_011528152.1:c.5963T>G | XP_011526454.1:p.Phe1988Cys | |
| XR_936195.1:n.6175T>G | ||
| XM_006722804.3:c.3266T>G | XP_006722867.1:p.Phe1089Cys | |
| NM_001367830.1:c.6035T>G | NP_001354759.1:p.Phe2012Cys | |
| NM_020812.4:c.5930T>G MANE Select | NP_065863.2:p.Phe1977Cys |