Linked Data
ClinVar Variation Id:
2048220
ClinVar RCV Id:
RCV002918635
dbSNP Id:
rs751539546
ExAC:
19:41928260 C / T
gnomAD v2:
19-41928260-C-T
gnomAD v3:
19-41422355-C-T
gnomAD v4:
19-41422355-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422355C>T , CM000681.2:g.41422355C>T | GRCh38 |
| NC_000019.9:g.41928260C>T , CM000681.1:g.41928260C>T | GRCh37 |
| NC_000019.8:g.46620100C>T | NCBI36 |
| NG_013004.1:g.29567C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.838C>T MANE Select | ENSP00000269980.2:p.Arg280Cys | |
| ENST00000269980.6:c.838C>T | ENSP00000269980.2:p.Arg280Cys | |
| ENST00000457836.6:c.772C>T | ENSP00000416000.2:p.Arg258Cys | |
| ENST00000535632.5:n.467C>T | ||
| ENST00000540732.3:c.940C>T | ENSP00000443246.1:p.Arg314Cys | |
| ENST00000542943.5:c.751C>T | ENSP00000440345.1:p.Arg251Cys | |
| ENST00000545787.1:n.466C>T | ||
| ENST00000595085.5:c.838C>T | ENSP00000471150.2:p.Arg280Cys | |
| NM_000709.3:c.838C>T | NP_000700.1:p.Arg280Cys | |
| NM_001164783.1:c.838C>T | NP_001158255.1:p.Arg280Cys | |
| NM_000709.4:c.838C>T MANE Select | NP_000700.1:p.Arg280Cys | |
| NM_001164783.2:c.838C>T | NP_001158255.1:p.Arg280Cys |