Linked Data
ClinVar Variation Id:
1386670
ClinVar RCV Id:
RCV002553496
dbSNP Id:
rs1479183749
gnomAD v2:
1-245027320-G-A
gnomAD v4:
1-244864018-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244864018G>A , CM000663.2:g.244864018G>A | GRCh38 |
| NC_000001.10:g.245027320G>A , CM000663.1:g.245027320G>A | GRCh37 |
| NC_000001.9:g.243093943G>A | NCBI36 |
| NG_042184.1:g.5508C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283179.14:c.290C>T | ENSP00000283179.10:p.Ser97Phe | |
| ENST00000444376.7:c.290C>T | ENSP00000393151.2:p.Ser97Phe | |
| ENST00000476241.2:n.475C>T | ||
| ENST00000638475.1:c.74C>T | ENSP00000491305.1:p.Ser25Phe | |
| ENST00000638952.1:n.521C>T | ||
| ENST00000640218.2:c.290C>T MANE Select | ENSP00000491215.1:p.Ser97Phe | |
| ENST00000640306.1:c.290C>T | ENSP00000491685.1:p.Ser97Phe | |
| ENST00000649899.1:n.514C>T | ||
| ENST00000283179.13:c.290C>T | ENSP00000283179.9:p.Ser97Phe | |
| ENST00000444376.6:c.290C>T | ENSP00000393151.2:p.Ser97Phe | |
| ENST00000476241.1:n.474C>T | ||
| NM_004501.3:c.290C>T | NP_004492.2:p.Ser97Phe | |
| NM_031844.2:c.290C>T | NP_114032.2:p.Ser97Phe | |
| NM_031844.3:c.290C>T MANE Select | NP_114032.2:p.Ser97Phe |