Linked Data
ClinVar Variation Id:
3218835
ClinVar RCV Id:
RCV004515210
dbSNP Id:
rs2053683381
gnomAD v4:
19-46704500-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46704500C>T , CM000681.2:g.46704500C>T | GRCh38 |
| NC_000019.9:g.47207757C>T , CM000681.1:g.47207757C>T | GRCh37 |
| NC_000019.8:g.51899597C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291281.9:c.661G>A MANE Select | ENSP00000291281.3:p.Glu221Lys | |
| ENST00000291281.8:c.661G>A | ENSP00000291281.3:p.Glu221Lys | |
| ENST00000433867.5:c.661G>A | ENSP00000393978.1:p.Glu221Lys | |
| ENST00000595132.5:c.190G>A | ENSP00000470363.1:p.Glu64Lys | |
| ENST00000595515.5:c.661G>A | ENSP00000470804.1:p.Glu221Lys | |
| ENST00000597641.1:c.396G>A | ENSP00000469064.1:n.396G>A | |
| ENST00000600194.5:c.190G>A | ENSP00000472744.1:p.Glu64Lys | |
| ENST00000601605.5:c.41-3388G>A | ENSP00000470442.1:n.41-3388G>A | |
| ENST00000601806.5:c.190G>A | ENSP00000469106.1:p.Glu64Lys | |
| NM_001079880.1:c.661G>A | NP_001073349.1:p.Glu221Lys | |
| NM_001079881.1:c.661G>A | NP_001073350.1:p.Glu221Lys | |
| NM_001079882.1:c.190G>A | NP_001073351.1:p.Glu64Lys | |
| NM_016457.4:c.661G>A | NP_057541.2:p.Glu221Lys | |
| XM_005258716.2:c.190G>A | XP_005258773.2:p.Glu64Lys | |
| NM_001079880.2:c.661G>A | NP_001073349.1:p.Glu221Lys | |
| NM_001079881.2:c.661G>A | NP_001073350.1:p.Glu221Lys | |
| NM_001079882.2:c.190G>A | NP_001073351.1:p.Glu64Lys | |
| NM_016457.5:c.661G>A MANE Select | NP_057541.2:p.Glu221Lys |