Linked Data
ClinVar Variation Id:
1714256
ClinVar RCV Id:
RCV002304326
dbSNP Id:
rs1319450206
gnomAD v2:
20-44684873-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46056234G>A , CM000682.2:g.46056234G>A | GRCh38 |
| NC_000020.10:g.44684873G>A , CM000682.1:g.44684873G>A | GRCh37 |
| NC_000020.9:g.44118280G>A | NCBI36 |
| NG_046341.1:g.39545G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.2872G>A MANE Select | ENSP00000243964.4:p.Glu958Lys | |
| ENST00000243964.6:c.2872G>A | ENSP00000243964.3:p.Glu958Lys | |
| ENST00000454036.6:c.2941G>A | ENSP00000387694.1:p.Glu981Lys | |
| ENST00000616201.4:c.1298-2422G>A | ENSP00000484585.1:n.1298-2422G>A | |
| ENST00000616202.4:c.613-2247G>A | ENSP00000478369.1:n.613-2247G>A | |
| ENST00000616933.4:c.*2190G>A | ENSP00000477569.1:n.*2190G>A | |
| ENST00000626937.2:c.510-3365G>A | ENSP00000485953.1:n.510-3365G>A | |
| ENST00000628413.1:n.388G>A | ||
| NM_001134771.1:c.2941G>A | NP_001128243.1:p.Glu981Lys | |
| NM_020708.4:c.2872G>A | NP_065759.1:p.Glu958Lys | |
| XM_017027981.1:c.2941G>A | XP_016883470.1:p.Glu981Lys | |
| NM_001134771.2:c.2941G>A | NP_001128243.1:p.Glu981Lys | |
| NM_020708.5:c.2872G>A MANE Select | NP_065759.1:p.Glu958Lys |