Linked Data
ClinVar Variation Id:
1121386
ClinVar RCV Id:
RCV001451656
dbSNP Id:
rs748005370
ExAC:
19:41928893 C / T
gnomAD v2:
19-41928893-C-T
gnomAD v3:
19-41422988-C-T
gnomAD v4:
19-41422988-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422988C>T , CM000681.2:g.41422988C>T | GRCh38 |
| NC_000019.9:g.41928893C>T , CM000681.1:g.41928893C>T | GRCh37 |
| NC_000019.8:g.46620733C>T | NCBI36 |
| NG_013004.1:g.30200C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.996-10C>T MANE Select | ENSP00000269980.2:n.996-10C>T | |
| ENST00000269980.6:c.996-10C>T | ENSP00000269980.2:n.996-10C>T | |
| ENST00000457836.6:c.995C>T | ENSP00000416000.2:p.Pro332Leu | |
| ENST00000540732.3:c.1098-10C>T | ENSP00000443246.1:n.1098-10C>T | |
| ENST00000542943.5:c.909-10C>T | ENSP00000440345.1:n.909-10C>T | |
| ENST00000595085.5:c.922+291C>T | ENSP00000471150.2:n.922+291C>T | |
| NM_000709.3:c.996-10C>T | NP_000700.1:n.996-10C>T | |
| NM_001164783.1:c.993-10C>T | NP_001158255.1:n.993-10C>T | |
| NM_000709.4:c.996-10C>T MANE Select | NP_000700.1:n.996-10C>T | |
| NM_001164783.2:c.993-10C>T | NP_001158255.1:n.993-10C>T |