Linked Data
ClinVar Variation Id:
506733
dbSNP Id:
rs200646708
ExAC:
19:41916823 C / T
gnomAD v2:
19-41916823-C-T
gnomAD v3:
19-41410918-C-T
gnomAD v4:
19-41410918-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41410918C>T , CM000681.2:g.41410918C>T | GRCh38 |
| NC_000019.9:g.41916823C>T , CM000681.1:g.41916823C>T | GRCh37 |
| NC_000019.8:g.46608663C>T | NCBI36 |
| NG_013004.1:g.18130C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.289-5C>T MANE Select | ENSP00000269980.2:n.289-5C>T | |
| ENST00000269980.6:c.289-5C>T | ENSP00000269980.2:n.289-5C>T | |
| ENST00000457836.6:c.223-5C>T | ENSP00000416000.2:n.223-5C>T | |
| ENST00000538423.5:n.410C>T | ||
| ENST00000540732.3:c.391-5C>T | ENSP00000443246.1:n.391-5C>T | |
| ENST00000541315.1:c.96-5C>T | ||
| ENST00000542943.5:c.288+102C>T | ENSP00000440345.1:n.288+102C>T | |
| ENST00000595085.5:c.289-5C>T | ENSP00000471150.2:n.289-5C>T | |
| NM_000709.3:c.289-5C>T | NP_000700.1:n.289-5C>T | |
| NM_001164783.1:c.289-5C>T | NP_001158255.1:n.289-5C>T | |
| NM_000709.4:c.289-5C>T MANE Select | NP_000700.1:n.289-5C>T | |
| NM_001164783.2:c.289-5C>T | NP_001158255.1:n.289-5C>T |