Linked Data
ClinVar Variation Id:
2203299
ClinVar RCV Id:
RCV002651634
dbSNP Id:
rs758493460
ExAC:
2:241818137 C / T
gnomAD v2:
2-241818137-C-T
gnomAD v4:
2-240878720-C-T
COSMIC:
COSM6392671
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878720C>T , CM000664.2:g.240878720C>T | GRCh38 |
| NC_000002.11:g.241818137C>T , CM000664.1:g.241818137C>T | GRCh37 |
| NC_000002.10:g.241466810C>T | NCBI36 |
| NG_008005.1:g.14976C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1078C>T MANE Select | ENSP00000302620.3:p.Arg360Trp | |
| ENST00000307503.3:c.1078C>T | ENSP00000302620.3:p.Arg360Trp | |
| ENST00000470255.1:n.856C>T | ||
| NM_000030.2:c.1078C>T | NP_000021.1:p.Arg360Trp | |
| NM_000030.3:c.1078C>T MANE Select | NP_000021.1:p.Arg360Trp |