Linked Data
ClinVar Variation Id:
2943779
ClinVar RCV Id:
RCV003803337
dbSNP Id:
rs137852868
gnomAD v3:
12-121839998-G-T
gnomAD v4:
12-121839998-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121839998G>T , CM000674.2:g.121839998G>T | GRCh38 |
| NC_000012.11:g.122277904G>T , CM000674.1:g.122277904G>T | GRCh37 |
| NC_000012.10:g.120762287G>T | NCBI36 |
| NG_016461.1:g.53614C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000289004.8:c.1005C>A MANE Select | ENSP00000289004.4:p.Ile335= | |
| ENST00000543163.5:c.888C>A | ENSP00000441677.1:p.Ile296= | |
| NM_001171993.1:c.888C>A | NP_001165464.1:p.Ile296= | |
| NM_002150.2:c.1005C>A | NP_002141.1:p.Ile335= | |
| NM_002150.3:c.1005C>A MANE Select | NP_002141.2:p.Ile335= | |
| NM_001171993.2:c.888C>A | NP_001165464.1:p.Ile296= |