Linked Data
ClinVar Variation Id:
330206
ClinVar RCV Id:
RCV001392554
dbSNP Id:
rs368857479
ExAC:
19:55670466 C / T
gnomAD v2:
19-55670466-C-T
gnomAD v3:
19-55159098-C-T
gnomAD v4:
19-55159098-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55159098C>T , CM000681.2:g.55159098C>T | GRCh38 |
| NC_000019.9:g.55670466C>T , CM000681.1:g.55670466C>T | GRCh37 |
| NC_000019.8:g.60362278C>T | NCBI36 |
| NG_007866.2:g.3635G>A , LRG_432:g.3635G>A | |
| NG_032759.1:g.12625G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524407.7:c.1590G>A MANE Select | ENSP00000432046.3:p.Pro530= | |
| ENST00000391720.8:c.1731G>A | ENSP00000375600.5:p.Pro577= | |
| ENST00000455045.5:c.1428G>A | ENSP00000394343.1:p.Pro476= | |
| ENST00000524407.6:c.1590G>A | ENSP00000432046.2:p.Pro530= | |
| ENST00000527223.6:c.1791G>A | ENSP00000436975.2:p.Pro597= | |
| ENST00000528412.5:c.*1378G>A | ENSP00000433826.2:n.*1378G>A | |
| ENST00000533527.6:n.1352G>A | ||
| ENST00000587789.2:n.675G>A | ||
| ENST00000587871.1:c.479+95G>A | ||
| ENST00000588076.1:c.589G>A | ||
| NM_001256714.1:c.1791G>A | NP_001243643.1:p.Pro597= | |
| NM_001256715.1:c.1590G>A | NP_001243644.1:p.Pro530= | |
| NM_001256716.1:c.1428G>A | NP_001243645.1:p.Pro476= | |
| NM_178837.4:c.1731G>A | NP_849159.2:p.Pro577= | |
| NM_001256715.2:c.1590G>A MANE Select | NP_001243644.1:p.Pro530= | |
| NM_001256716.2:c.1428G>A | NP_001243645.1:p.Pro476= |