Linked Data
ClinVar Variation Id:
2090473
ClinVar RCV Id:
RCV003013120
dbSNP Id:
rs781119598
ExAC:
16:28997052 C / T
gnomAD v2:
16-28997052-C-T
gnomAD v4:
16-28985731-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28985731C>T , CM000678.2:g.28985731C>T | GRCh38 |
| NC_000016.9:g.28997052C>T , CM000678.1:g.28997052C>T | GRCh37 |
| NC_000016.8:g.28904553C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697038.1:n.126C>T | ||
| ENST00000354453.7:n.471C>T | ||
| ENST00000395456.7:c.119C>T MANE Select | ENSP00000378841.3:p.Ser40Phe | |
| ENST00000360872.9:c.119C>T | ENSP00000354119.5:p.Ser40Phe | |
| ENST00000395456.6:c.119C>T | ENSP00000378841.2:p.Ser40Phe | |
| ENST00000395461.7:c.227C>T | ENSP00000378845.3:p.Ser76Phe | |
| ENST00000454369.6:c.119C>T | ENSP00000398793.2:p.Ser40Phe | |
| ENST00000562472.5:n.473C>T | ||
| ENST00000562701.5:c.119C>T | ENSP00000454793.1:p.Ser40Phe | |
| ENST00000563964.5:n.471C>T | ||
| ENST00000564277.5:c.119C>T | ENSP00000457036.1:p.Ser40Phe | |
| ENST00000566177.5:c.119C>T | ENSP00000456761.1:p.Ser40Phe | |
| ENST00000566270.5:n.488C>T | ||
| ENST00000630764.2:c.119C>T | ENSP00000488120.1:p.Ser40Phe | |
| NM_001014987.1:c.119C>T | NP_001014987.1:p.Ser40Phe | |
| NM_001014988.1:c.119C>T | NP_001014988.1:p.Ser40Phe | |
| NM_001014989.1:c.227C>T | NP_001014989.2:p.Ser76Phe | |
| NM_014387.3:c.119C>T | NP_055202.1:p.Ser40Phe | |
| NM_001014987.2:c.119C>T MANE Select | NP_001014987.1:p.Ser40Phe | |
| NM_001014988.2:c.119C>T | NP_001014988.1:p.Ser40Phe | |
| NM_001014989.2:c.227C>T | NP_001014989.2:p.Ser76Phe | |
| NM_014387.4:c.119C>T | NP_055202.1:p.Ser40Phe |