Linked Data
ClinVar Variation Id:
3049559
ClinVar RCV Id:
RCV003959366
dbSNP Id:
rs148878316
ExAC:
11:5254275 C / T
gnomAD v2:
11-5254275-C-T
gnomAD v3:
11-5233045-C-T
gnomAD v4:
11-5233045-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5233045C>T , CM000673.2:g.5233045C>T | GRCh38 |
| NC_000011.9:g.5254275C>T , CM000673.1:g.5254275C>T | GRCh37 |
| NC_000011.8:g.5210851C>T | NCBI36 |
| NG_000007.3:g.64571G>A | |
| NG_063112.2:g.15613G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.363G>A | ENSP00000494708.1:p.Lys121= | |
| ENST00000650601.1:c.363G>A MANE Select | ENSP00000497529.1:p.Lys121= | |
| ENST00000292901.7:c.316-247G>A | ENSP00000292901.3:n.316-247G>A | |
| ENST00000380299.3:c.363G>A | ENSP00000369654.3:p.Lys121= | |
| ENST00000417377.1:c.140G>A | ENSP00000414741.1:p.Arg47Lys | |
| NM_000519.3:c.363G>A | NP_000510.1:p.Lys121= | |
| NM_000519.4:c.363G>A MANE Select | NP_000510.1:p.Lys121= |