Linked Data
ClinVar Variation Id:
324360
ClinVar RCV Id:
RCV000289653
dbSNP Id:
rs886053219
gnomAD v2:
17-61554619-C-T
gnomAD v4:
17-63477258-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63477258C>T , CM000679.2:g.63477258C>T | GRCh38 |
| NC_000017.10:g.61554619C>T , CM000679.1:g.61554619C>T | GRCh37 |
| NC_000017.9:g.58908351C>T | NCBI36 |
| NG_011648.1:g.5186C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.164C>T MANE Select | ENSP00000290866.4:p.Ser55Phe | |
| ENST00000290866.9:c.164C>T | ENSP00000290866.4:p.Ser55Phe | |
| ENST00000428043.5:c.164C>T | ENSP00000397593.2:p.Ser55Phe | |
| ENST00000579462.1:n.189C>T | ||
| ENST00000582678.5:c.164C>T | ENSP00000462995.1:p.Ser55Phe | |
| ENST00000583336.5:n.198C>T | ||
| ENST00000584529.5:n.198C>T | ||
| NM_000789.3:c.164C>T | NP_000780.1:p.Ser55Phe | |
| XM_005257110.1:c.-292C>T | XP_005257167.1:n.-292C>T | |
| NM_000789.4:c.164C>T MANE Select | NP_000780.1:p.Ser55Phe | |
| NM_001382700.1:c.-72C>T | NP_001369629.1:n.-72C>T | |
| NM_001382701.1:c.-451C>T | NP_001369630.1:n.-451C>T |