Linked Data
ClinVar Variation Id:
166742
dbSNP Id:
rs147021347
ExAC:
19:41930426 C / T
gnomAD v2:
19-41930426-C-T
gnomAD v3:
19-41424521-C-T
gnomAD v4:
19-41424521-C-T
COSMIC:
COSM3534394
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424521C>T , CM000681.2:g.41424521C>T | GRCh38 |
| NC_000019.9:g.41930426C>T , CM000681.1:g.41930426C>T | GRCh37 |
| NC_000019.8:g.46622266C>T | NCBI36 |
| NG_013004.1:g.31733C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1251C>T MANE Select | ENSP00000269980.2:p.Pro417= | |
| ENST00000269980.6:c.1251C>T | ENSP00000269980.2:p.Pro417= | |
| ENST00000457836.6:c.1260C>T | ENSP00000416000.2:p.Pro420= | |
| ENST00000540732.3:c.1353C>T | ENSP00000443246.1:p.Pro451= | |
| ENST00000544905.1:c.81C>T | ||
| ENST00000595085.5:c.922+1824C>T | ENSP00000471150.2:n.922+1824C>T | |
| NM_000709.3:c.1251C>T | NP_000700.1:p.Pro417= | |
| NM_001164783.1:c.1248C>T | NP_001158255.1:p.Pro416= | |
| NM_000709.4:c.1251C>T MANE Select | NP_000700.1:p.Pro417= | |
| NM_001164783.2:c.1248C>T | NP_001158255.1:p.Pro416= |