Linked Data
ClinVar Variation Id:
1077989
ClinVar RCV Id:
RCV001392781
dbSNP Id:
rs398123493
gnomAD v4:
19-41424584-C-T
MyVariant Identifiers:
chr19:g.41930489C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424584C>T , CM000681.2:g.41424584C>T | GRCh38 |
| NC_000019.9:g.41930489C>T , CM000681.1:g.41930489C>T | GRCh37 |
| NC_000019.8:g.46622329C>T | NCBI36 |
| NG_013004.1:g.31796C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1314C>T MANE Select | ENSP00000269980.2:p.Tyr438= | |
| ENST00000269980.6:c.1314C>T | ENSP00000269980.2:p.Tyr438= | |
| ENST00000457836.6:c.1323C>T | ENSP00000416000.2:p.Tyr441= | |
| ENST00000540732.3:c.1416C>T | ENSP00000443246.1:p.Tyr472= | |
| ENST00000544905.1:c.144C>T | ||
| ENST00000595085.5:c.922+1887C>T | ENSP00000471150.2:n.922+1887C>T | |
| NM_000709.3:c.1314C>T | NP_000700.1:p.Tyr438= | |
| NM_001164783.1:c.1311C>T | NP_001158255.1:p.Tyr437= | |
| NM_000709.4:c.1314C>T MANE Select | NP_000700.1:p.Tyr438= | |
| NM_001164783.2:c.1311C>T | NP_001158255.1:p.Tyr437= |