Linked Data
ClinVar Variation Id:
423636
ClinVar RCV Id:
RCV002525939
dbSNP Id:
rs1064796541
gnomAD v2:
X-153128939-C-T
gnomAD v3:
X-153863484-C-T
gnomAD v4:
X-153863484-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153863484C>T , CM000685.2:g.153863484C>T | GRCh38 |
| NC_000023.10:g.153128939C>T , CM000685.1:g.153128939C>T | GRCh37 |
| NC_000023.9:g.152782133C>T | NCBI36 |
| NG_009645.3:g.50740G>A | |
| NG_009645.4:g.27690G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370060.7:c.3523G>A MANE Select | ENSP00000359077.1:p.Glu1175Lys | |
| ENST00000361699.8:c.3523G>A | ENSP00000355380.4:p.Glu1175Lys | |
| ENST00000361981.7:c.3508G>A | ENSP00000354712.3:p.Glu1170Lys | |
| ENST00000370055.5:c.3508G>A | ENSP00000359072.1:p.Glu1170Lys | |
| ENST00000370058.7:c.223G>A | ENSP00000359075.3:p.Glu75Lys | |
| ENST00000370060.5:c.3523G>A | ENSP00000359077.1:p.Glu1175Lys | |
| ENST00000491983.1:n.486G>A | ||
| NM_000425.4:c.3523G>A | NP_000416.1:p.Glu1175Lys | |
| NM_001143963.2:c.3508G>A | NP_001137435.1:p.Glu1170Lys | |
| NM_001278116.1:c.3523G>A | NP_001265045.1:p.Glu1175Lys | |
| NM_024003.3:c.3523G>A | NP_076493.1:p.Glu1175Lys | |
| NM_000425.5:c.3523G>A | NP_000416.1:p.Glu1175Lys | |
| NM_001278116.2:c.3523G>A MANE Select | NP_001265045.1:p.Glu1175Lys |