Linked Data
ClinVar Variation Id:
990529
dbSNP Id:
rs2039381646
gnomAD v4:
19-41422714-C-T
MyVariant Identifiers:
chr19:g.41928619C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422714C>T , CM000681.2:g.41422714C>T | GRCh38 |
| NC_000019.9:g.41928619C>T , CM000681.1:g.41928619C>T | GRCh37 |
| NC_000019.8:g.46620459C>T | NCBI36 |
| NG_013004.1:g.29926C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269980.7:c.939C>T MANE Select | ENSP00000269980.2:p.Ala313= | |
| ENST00000269980.6:c.939C>T | ENSP00000269980.2:p.Ala313= | |
| ENST00000457836.6:c.873C>T | ENSP00000416000.2:p.Ala291= | |
| ENST00000535632.5:n.568C>T | ||
| ENST00000540732.3:c.1041C>T | ENSP00000443246.1:p.Ala347= | |
| ENST00000542943.5:c.852C>T | ENSP00000440345.1:p.Ala284= | |
| ENST00000545787.1:n.567C>T | ||
| ENST00000595085.5:c.922+17C>T | ENSP00000471150.2:n.922+17C>T | |
| NM_000709.3:c.939C>T | NP_000700.1:p.Ala313= | |
| NM_001164783.1:c.936C>T | NP_001158255.1:p.Ala312= | |
| NM_000709.4:c.939C>T MANE Select | NP_000700.1:p.Ala313= | |
| NM_001164783.2:c.936C>T | NP_001158255.1:p.Ala312= |