Linked Data
ClinVar Variation Id:
199035
dbSNP Id:
rs557058340
ExAC:
19:41930452 C / T
gnomAD v2:
19-41930452-C-T
gnomAD v3:
19-41424547-C-T
gnomAD v4:
19-41424547-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424547C>T , CM000681.2:g.41424547C>T | GRCh38 |
| NC_000019.9:g.41930452C>T , CM000681.1:g.41930452C>T | GRCh37 |
| NC_000019.8:g.46622292C>T | NCBI36 |
| NG_013004.1:g.31759C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1277C>T MANE Select | ENSP00000269980.2:p.Ser426Phe | |
| ENST00000269980.6:c.1277C>T | ENSP00000269980.2:p.Ser426Phe | |
| ENST00000457836.6:c.1286C>T | ENSP00000416000.2:p.Ser429Phe | |
| ENST00000540732.3:c.1379C>T | ENSP00000443246.1:p.Ser460Phe | |
| ENST00000544905.1:c.107C>T | ||
| ENST00000595085.5:c.922+1850C>T | ENSP00000471150.2:n.922+1850C>T | |
| NM_000709.3:c.1277C>T | NP_000700.1:p.Ser426Phe | |
| NM_001164783.1:c.1274C>T | NP_001158255.1:p.Ser425Phe | |
| NM_000709.4:c.1277C>T MANE Select | NP_000700.1:p.Ser426Phe | |
| NM_001164783.2:c.1274C>T | NP_001158255.1:p.Ser425Phe |