Linked Data
ClinVar Variation Id:
1485256
ClinVar RCV Id:
RCV002030357
dbSNP Id:
rs202082129
gnomAD v2:
22-50659385-C-A
gnomAD v3:
22-50220956-C-A
gnomAD v4:
22-50220956-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220956C>A , CM000684.2:g.50220956C>A | GRCh38 |
| NC_000022.10:g.50659385C>A , CM000684.1:g.50659385C>A | GRCh37 |
| NC_000022.9:g.49001512C>A | NCBI36 |
| NG_032160.1:g.29016G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3403G>T MANE Select | ENSP00000248846.5:p.Gly1135Trp | |
| ENST00000248846.9:c.3403G>T | ENSP00000248846.5:p.Gly1135Trp | |
| ENST00000439308.6:c.3403G>T | ENSP00000397387.2:p.Gly1135Trp | |
| ENST00000491449.5:n.1710G>T | ||
| ENST00000498611.5:n.3617+319G>T | ||
| NM_020461.3:c.3403G>T | NP_065194.2:p.Gly1135Trp | |
| XR_938347.1:n.3968G>T | ||
| XR_938348.1:n.3050-941G>T | ||
| XR_001755343.2:n.3972G>T | ||
| XR_001755344.2:n.3972G>T | ||
| XR_002958720.1:n.3054-941G>T | ||
| XR_938347.2:n.3972G>T | ||
| NM_020461.4:c.3403G>T MANE Select | NP_065194.3:p.Gly1135Trp |