Linked Data
ClinVar Variation Id:
438207
ClinVar RCV Id:
RCV000505036
dbSNP Id:
rs1554194404
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63984501G>A , CM000668.2:g.63984501G>A | GRCh38 |
| NC_000006.11:g.64694394G>A , CM000668.1:g.64694394G>A | GRCh37 |
| NC_000006.10:g.64752353G>A | NCBI36 |
| NG_023443.1:g.1727725C>T | |
| NG_023443.2:g.1727725C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.6937C>T MANE Select | ENSP00000424243.1:p.Gln2313Ter | |
| ENST00000370616.6:c.6937C>T | ENSP00000359650.2:p.Gln2313Ter | |
| ENST00000370618.7:c.6937C>T | ENSP00000359652.4:p.Gln2313Ter | |
| ENST00000370621.7:c.6937C>T | ENSP00000359655.3:p.Gln2313Ter | |
| ENST00000398580.3:c.251C>T | ||
| ENST00000503581.5:c.6937C>T | ENSP00000424243.1:p.Gln2313Ter | |
| NM_001142800.1:c.6937C>T | NP_001136272.1:p.Gln2313Ter | |
| NM_001292009.1:c.6937C>T | NP_001278938.1:p.Gln2313Ter | |
| XR_001744188.1:n.606+16217G>A | ||
| XR_001744189.1:n.129+16217G>A | ||
| XR_001744190.1:n.197+16217G>A | ||
| XR_001744191.1:n.607-1153G>A | ||
| NM_001142800.2:c.6937C>T MANE Select | NP_001136272.1:p.Gln2313Ter | |
| NM_001292009.2:c.6937C>T | NP_001278938.1:p.Gln2313Ter |