Linked Data
ClinVar Variation Id:
2633264
ClinVar RCV Id:
RCV003408462
dbSNP Id:
rs1327588458
gnomAD v2:
1-160206925-G-A
gnomAD v3:
1-160237135-G-A
gnomAD v4:
1-160237135-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160237135G>A , CM000663.2:g.160237135G>A | GRCh38 |
| NC_000001.10:g.160206925G>A , CM000663.1:g.160206925G>A | GRCh37 |
| NC_000001.9:g.158473549G>A | NCBI36 |
| NG_034154.1:g.30426C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368074.6:c.959C>T MANE Select | ENSP00000357053.1:p.Ser320Leu | |
| ENST00000556710.6:c.*1543C>T | ENSP00000451235.2:n.*1543C>T | |
| ENST00000647676.1:c.1297C>T | ENSP00000497162.1:n.1297C>T | |
| ENST00000326837.6:c.959C>T | ENSP00000318227.2:p.Ser320Leu | |
| ENST00000368073.7:c.959C>T | ENSP00000357052.3:p.Ser320Leu | |
| ENST00000368074.5:c.959C>T | ENSP00000357053.1:p.Ser320Leu | |
| ENST00000461888.5:c.959C>T | ENSP00000476407.1:p.Ser320Leu | |
| ENST00000466253.1:n.474C>T | ||
| ENST00000556710.5:c.1421C>T | ENSP00000451235.1:p.Ser474Leu | |
| NM_015726.3:c.959C>T | NP_056541.2:p.Ser320Leu | |
| NR_028103.1:n.1471C>T | ||
| NR_028104.1:n.1397C>T | ||
| NM_015726.4:c.959C>T MANE Select | NP_056541.2:p.Ser320Leu | |
| NR_028103.2:n.1492C>T | ||
| NR_028104.2:n.1418C>T |