Linked Data
ClinVar Variation Id:
2379
dbSNP Id:
rs137852873
ExAC:
19:41928215 C / T
gnomAD v2:
19-41928215-C-T
gnomAD v3:
19-41422310-C-T
gnomAD v4:
19-41422310-C-T
PubMed:
PMID:9582350
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422310C>T , CM000681.2:g.41422310C>T | GRCh38 |
| NC_000019.9:g.41928215C>T , CM000681.1:g.41928215C>T | GRCh37 |
| NC_000019.8:g.46620055C>T | NCBI36 |
| NG_013004.1:g.29522C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269980.7:c.793C>T MANE Select | ENSP00000269980.2:p.Arg265Trp | |
| ENST00000269980.6:c.793C>T | ENSP00000269980.2:p.Arg265Trp | |
| ENST00000457836.6:c.727C>T | ENSP00000416000.2:p.Arg243Trp | |
| ENST00000535632.5:n.422C>T | ||
| ENST00000540732.3:c.895C>T | ENSP00000443246.1:p.Arg299Trp | |
| ENST00000542943.5:c.706C>T | ENSP00000440345.1:p.Arg236Trp | |
| ENST00000545787.1:n.421C>T | ||
| ENST00000595085.5:c.793C>T | ENSP00000471150.2:p.Arg265Trp | |
| NM_000709.3:c.793C>T | NP_000700.1:p.Arg265Trp | |
| NM_001164783.1:c.793C>T | NP_001158255.1:p.Arg265Trp | |
| NM_000709.4:c.793C>T MANE Select | NP_000700.1:p.Arg265Trp | |
| NM_001164783.2:c.793C>T | NP_001158255.1:p.Arg265Trp |