Linked Data
ClinVar Variation Id:
93385
ClinVar RCV Id:
RCV001275918
dbSNP Id:
rs398123515
gnomAD v2:
19-41928659-G-A
gnomAD v3:
19-41422754-G-A
gnomAD v4:
19-41422754-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422754G>A , CM000681.2:g.41422754G>A | GRCh38 |
| NC_000019.9:g.41928659G>A , CM000681.1:g.41928659G>A | GRCh37 |
| NC_000019.8:g.46620499G>A | NCBI36 |
| NG_013004.1:g.29966G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269980.7:c.979G>A MANE Select | ENSP00000269980.2:p.Glu327Lys | |
| ENST00000269980.6:c.979G>A | ENSP00000269980.2:p.Glu327Lys | |
| ENST00000457836.6:c.913G>A | ENSP00000416000.2:p.Glu305Lys | |
| ENST00000535632.5:n.608G>A | ||
| ENST00000540732.3:c.1081G>A | ENSP00000443246.1:p.Glu361Lys | |
| ENST00000542943.5:c.892G>A | ENSP00000440345.1:p.Glu298Lys | |
| ENST00000595085.5:c.922+57G>A | ENSP00000471150.2:n.922+57G>A | |
| NM_000709.3:c.979G>A | NP_000700.1:p.Glu327Lys | |
| NM_001164783.1:c.976G>A | NP_001158255.1:p.Glu326Lys | |
| NM_000709.4:c.979G>A MANE Select | NP_000700.1:p.Glu327Lys | |
| NM_001164783.2:c.976G>A | NP_001158255.1:p.Glu326Lys |