Linked Data
ClinVar Variation Id:
1071742
ClinVar RCV Id:
RCV001384275
dbSNP Id:
rs150686179
ExAC:
1:94544906 G / C
gnomAD v2:
1-94544906-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94079350G>C , CM000663.2:g.94079350G>C | GRCh38 |
| NC_000001.10:g.94544906G>C , CM000663.1:g.94544906G>C | GRCh37 |
| NC_000001.9:g.94317494G>C | NCBI36 |
| NG_009073.1:g.46800C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1211C>G MANE Select | ENSP00000359245.3:p.Ser404Ter | |
| ENST00000649773.1:c.1211C>G | ENSP00000496882.1:p.Ser404Ter | |
| ENST00000370225.3:c.1211C>G | ENSP00000359245.3:p.Ser404Ter | |
| NM_000350.2:c.1211C>G | NP_000341.2:p.Ser404Ter | |
| NM_000350.3:c.1211C>G MANE Select | NP_000341.2:p.Ser404Ter |