Linked Data
ClinVar Variation Id:
1500574
ClinVar RCV Id:
RCV002015755
dbSNP Id:
rs1024485397
gnomAD v2:
15-51057708-G-A
gnomAD v3:
15-50765511-G-A
gnomAD v4:
15-50765511-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50765511G>A , CM000677.2:g.50765511G>A | GRCh38 |
| NC_000015.9:g.51057708G>A , CM000677.1:g.51057708G>A | GRCh37 |
| NC_000015.8:g.48845000G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559293.2:c.23C>T | ENSP00000513578.1:p.Ser8Phe | |
| ENST00000698130.1:n.198C>T | ||
| ENST00000698131.1:c.23C>T | ENSP00000513576.1:p.Ser8Phe | |
| ENST00000698132.1:c.23C>T | ENSP00000513577.1:p.Ser8Phe | |
| ENST00000698133.1:c.23C>T | ENSP00000513579.1:p.Ser8Phe | |
| ENST00000698134.1:c.23C>T | ENSP00000513580.1:p.Ser8Phe | |
| ENST00000698135.1:c.23C>T | ENSP00000513581.1:p.Ser8Phe | |
| ENST00000698136.1:n.198C>T | ||
| ENST00000698137.1:n.198C>T | ||
| ENST00000698138.1:n.198C>T | ||
| ENST00000698140.1:n.198C>T | ||
| ENST00000261854.10:c.23C>T MANE Select | ENSP00000261854.5:p.Ser8Phe | |
| ENST00000261854.9:c.23C>T | ENSP00000261854.5:p.Ser8Phe | |
| ENST00000560288.1:n.199C>T | ||
| NM_032802.3:c.23C>T | NP_116191.2:p.Ser8Phe | |
| XM_005254722.2:c.23C>T | XP_005254779.1:p.Ser8Phe | |
| XM_011522113.1:c.120+513C>T | XP_011520415.1:n.120+513C>T | |
| XM_011522114.1:c.120+513C>T | XP_011520416.1:n.120+513C>T | |
| XM_011522115.1:c.120+513C>T | XP_011520417.1:n.120+513C>T | |
| XM_011522116.1:c.120+513C>T | XP_011520418.1:n.120+513C>T | |
| XM_005254722.3:c.23C>T | XP_005254779.1:p.Ser8Phe | |
| XM_017022680.1:c.23C>T | XP_016878169.1:p.Ser8Phe | |
| XM_017022681.1:c.23C>T | XP_016878170.1:p.Ser8Phe | |
| NM_032802.4:c.23C>T MANE Select | NP_116191.2:p.Ser8Phe |