Linked Data
ClinVar Variation Id:
1398916
ClinVar RCV Id:
RCV001915308
dbSNP Id:
rs2147179108
gnomAD v4:
22-50221117-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50221117C>T , CM000684.2:g.50221117C>T | GRCh38 |
| NC_000022.10:g.50659546C>T , CM000684.1:g.50659546C>T | GRCh37 |
| NC_000022.9:g.49001673C>T | NCBI36 |
| NG_032160.1:g.28855G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3242G>A MANE Select | ENSP00000248846.5:p.Gly1081Glu | |
| ENST00000248846.9:c.3242G>A | ENSP00000248846.5:p.Gly1081Glu | |
| ENST00000439308.6:c.3242G>A | ENSP00000397387.2:p.Gly1081Glu | |
| ENST00000491449.5:n.1549G>A | ||
| ENST00000498611.5:n.3617+158G>A | ||
| NM_020461.3:c.3242G>A | NP_065194.2:p.Gly1081Glu | |
| XR_938347.1:n.3807G>A | ||
| XR_938348.1:n.3049+911G>A | ||
| XR_001755343.2:n.3811G>A | ||
| XR_001755344.2:n.3811G>A | ||
| XR_002958720.1:n.3053+911G>A | ||
| XR_938347.2:n.3811G>A | ||
| NM_020461.4:c.3242G>A MANE Select | NP_065194.3:p.Gly1081Glu |