Linked Data
ClinVar Variation Id:
1963379
ClinVar RCV Id:
RCV002715840
dbSNP Id:
rs1287419144
gnomAD v2:
22-24108365-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23766178G>A , CM000684.2:g.23766178G>A | GRCh38 |
| NC_000022.10:g.24108365G>A , CM000684.1:g.24108365G>A | GRCh37 |
| NC_000022.9:g.22438365G>A | NCBI36 |
| NG_034223.1:g.6795C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484558.3:c.359C>T MANE Select | ENSP00000418428.3:p.Ser120Phe | |
| ENST00000401675.7:c.380C>T | ENSP00000384973.3:p.Ser127Phe | |
| ENST00000484558.2:c.359C>T | ENSP00000418428.2:p.Ser120Phe | |
| ENST00000517886.1:c.*6C>T | ENSP00000429976.1:n.*6C>T | |
| ENST00000520222.1:c.139C>T | ENSP00000430042.1:p.Pro47Ser | |
| ENST00000523865.1:n.287C>T | ||
| NM_001301339.1:c.380C>T | NP_001288268.1:p.Ser127Phe | |
| NM_213720.2:c.359C>T | NP_998885.1:p.Ser120Phe | |
| NR_125755.1:n.404C>T | ||
| NR_125756.1:n.237C>T | ||
| NM_001301339.2:c.380C>T | NP_001288268.1:p.Ser127Phe | |
| NM_213720.3:c.359C>T MANE Select | NP_998885.1:p.Ser120Phe | |
| NR_125755.2:n.404C>T | ||
| NR_125756.2:n.237C>T |