Linked Data
ClinVar Variation Id:
1513322
ClinVar RCV Id:
RCV002018364
dbSNP Id:
rs1211758102
gnomAD v2:
1-160100344-C-T
gnomAD v4:
1-160130554-C-T
COSMIC:
COSM4664274
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160130554C>T , CM000663.2:g.160130554C>T | GRCh38 |
| NC_000001.10:g.160100344C>T , CM000663.1:g.160100344C>T | GRCh37 |
| NC_000001.9:g.158366968C>T | NCBI36 |
| NG_008014.1:g.19797C>T , LRG_6:g.19797C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.1784C>T MANE Select | ENSP00000354490.3:p.Ala595Val | |
| ENST00000361216.7:c.1784C>T | ENSP00000354490.3:p.Ala595Val | |
| ENST00000392233.7:c.1784C>T | ENSP00000376066.3:p.Ala595Val | |
| ENST00000447527.1:c.916C>T | ||
| ENST00000472488.5:n.1887C>T | ||
| NM_000702.3:c.1784C>T | NP_000693.1:p.Ala595Val | |
| NM_000702.4:c.1784C>T MANE Select | NP_000693.1:p.Ala595Val |