Linked Data
ClinVar Variation Id:
2186112
ClinVar RCV Id:
RCV002620017
dbSNP Id:
rs767367356
ExAC:
19:41928518 C / T
gnomAD v2:
19-41928518-C-T
gnomAD v3:
19-41422613-C-T
gnomAD v4:
19-41422613-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422613C>T , CM000681.2:g.41422613C>T | GRCh38 |
| NC_000019.9:g.41928518C>T , CM000681.1:g.41928518C>T | GRCh37 |
| NC_000019.8:g.46620358C>T | NCBI36 |
| NG_013004.1:g.29825C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.854-16C>T MANE Select | ENSP00000269980.2:n.854-16C>T | |
| ENST00000269980.6:c.854-16C>T | ENSP00000269980.2:n.854-16C>T | |
| ENST00000457836.6:c.788-16C>T | ENSP00000416000.2:n.788-16C>T | |
| ENST00000535632.5:n.483-16C>T | ||
| ENST00000540732.3:c.956-16C>T | ENSP00000443246.1:n.956-16C>T | |
| ENST00000542943.5:c.767-16C>T | ENSP00000440345.1:n.767-16C>T | |
| ENST00000545787.1:n.482-16C>T | ||
| ENST00000595085.5:c.854-16C>T | ENSP00000471150.2:n.854-16C>T | |
| NM_000709.3:c.854-16C>T | NP_000700.1:n.854-16C>T | |
| NM_001164783.1:c.854-19C>T | NP_001158255.1:n.854-19C>T | |
| NM_000709.4:c.854-16C>T MANE Select | NP_000700.1:n.854-16C>T | |
| NM_001164783.2:c.854-19C>T | NP_001158255.1:n.854-19C>T |