Linked Data
ClinVar Variation Id:
2788349
ClinVar RCV Id:
RCV003762278
dbSNP Id:
rs1397121117
gnomAD v3:
1-169555307-C-T
gnomAD v4:
1-169555307-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169555307C>T , CM000663.2:g.169555307C>T | GRCh38 |
| NC_000001.10:g.169524545C>T , CM000663.1:g.169524545C>T | GRCh37 |
| NC_000001.9:g.167791169C>T | NCBI36 |
| NG_011806.1:g.36225G>A , LRG_553:g.36225G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.993G>A MANE Select | ENSP00000356771.3:p.Lys331= | |
| ENST00000367796.3:c.993G>A | ENSP00000356770.3:p.Lys331= | |
| ENST00000367797.7:c.993G>A | ENSP00000356771.3:p.Lys331= | |
| NM_000130.4:c.993G>A , LRG_553t1:c.993G>A | NP_000121.2:p.Lys331= | |
| XM_017000660.2:c.582G>A | XP_016856149.1:p.Lys194= | |
| NM_000130.5:c.993G>A MANE Select | NP_000121.2:p.Lys331= |