Linked Data
ClinVar Variation Id:
958385
ClinVar RCV Id:
RCV001231543
dbSNP Id:
rs749146718
ExAC:
22:18561165 C / T
gnomAD v2:
22-18561165-C-T
gnomAD v3:
22-18078399-C-T
gnomAD v4:
22-18078399-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18078399C>T , CM000684.2:g.18078399C>T | GRCh38 |
| NC_000022.10:g.18561165C>T , CM000684.1:g.18561165C>T | GRCh37 |
| NC_000022.9:g.16941165C>T | NCBI36 |
| NG_008339.1:g.5480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399744.8:c.23C>T MANE Select | ENSP00000382648.4:p.Ser8Phe | |
| ENST00000474897.6:c.23C>T | ENSP00000434235.2:p.Ser8Phe | |
| ENST00000329627.11:c.23C>T | ENSP00000331106.5:p.Ser8Phe | |
| ENST00000399744.7:c.23C>T | ENSP00000382648.3:p.Ser8Phe | |
| ENST00000428061.2:c.23C>T | ENSP00000412441.2:p.Ser8Phe | |
| ENST00000474897.5:c.23C>T | ENSP00000434235.1:p.Ser8Phe | |
| ENST00000610387.4:c.23C>T | ENSP00000482091.1:p.Ser8Phe | |
| NM_001127649.2:c.23C>T | NP_001121121.1:p.Ser8Phe | |
| NM_001199319.1:c.23C>T | NP_001186248.1:p.Ser8Phe | |
| NM_017929.5:c.23C>T | NP_060399.1:p.Ser8Phe | |
| NM_001127649.3:c.23C>T MANE Select | NP_001121121.1:p.Ser8Phe | |
| NM_001199319.2:c.23C>T | NP_001186248.1:p.Ser8Phe | |
| NM_017929.6:c.23C>T | NP_060399.1:p.Ser8Phe |