Linked Data
ClinVar Variation Id:
93369
dbSNP Id:
rs146932786
ExAC:
19:41928130 C / T
gnomAD v2:
19-41928130-C-T
gnomAD v3:
19-41422225-C-T
gnomAD v4:
19-41422225-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422225C>T , CM000681.2:g.41422225C>T | GRCh38 |
| NC_000019.9:g.41928130C>T , CM000681.1:g.41928130C>T | GRCh37 |
| NC_000019.8:g.46619970C>T | NCBI36 |
| NG_013004.1:g.29437C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.708C>T MANE Select | ENSP00000269980.2:p.Phe236= | |
| ENST00000269980.6:c.708C>T | ENSP00000269980.2:p.Phe236= | |
| ENST00000457836.6:c.642C>T | ENSP00000416000.2:p.Phe214= | |
| ENST00000535632.5:n.337C>T | ||
| ENST00000540732.3:c.810C>T | ENSP00000443246.1:p.Phe270= | |
| ENST00000541315.1:c.608C>T | ||
| ENST00000542943.5:c.621C>T | ENSP00000440345.1:p.Phe207= | |
| ENST00000545787.1:n.336C>T | ||
| ENST00000595085.5:c.708C>T | ENSP00000471150.2:p.Phe236= | |
| NM_000709.3:c.708C>T | NP_000700.1:p.Phe236= | |
| NM_001164783.1:c.708C>T | NP_001158255.1:p.Phe236= | |
| NM_000709.4:c.708C>T MANE Select | NP_000700.1:p.Phe236= | |
| NM_001164783.2:c.708C>T | NP_001158255.1:p.Phe236= |