Linked Data
ClinVar Variation Id:
212517
dbSNP Id:
rs192919234
ExAC:
22:50678643 G / A
gnomAD v2:
22-50678643-G-A
gnomAD v3:
22-50240214-G-A
gnomAD v4:
22-50240214-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50240214G>A , CM000684.2:g.50240214G>A | GRCh38 |
| NC_000022.10:g.50678643G>A , CM000684.1:g.50678643G>A | GRCh37 |
| NC_000022.9:g.49020770G>A | NCBI36 |
| NG_032160.1:g.9758C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248846.10:c.895C>T MANE Select | ENSP00000248846.5:p.Arg299Ter | |
| ENST00000248846.9:c.895C>T | ENSP00000248846.5:p.Arg299Ter | |
| ENST00000434349.1:c.136+11C>T | ||
| ENST00000439308.6:c.895C>T | ENSP00000397387.2:p.Arg299Ter | |
| ENST00000498611.5:n.1428C>T | ||
| NM_020461.3:c.895C>T | NP_065194.2:p.Arg299Ter | |
| XR_938347.1:n.1460C>T | ||
| XR_938348.1:n.1460C>T | ||
| XR_001755343.2:n.1464C>T | ||
| XR_001755344.2:n.1464C>T | ||
| XR_002958720.1:n.1464C>T | ||
| XR_938347.2:n.1464C>T | ||
| NM_020461.4:c.895C>T MANE Select | NP_065194.3:p.Arg299Ter |