Linked Data
ClinVar Variation Id:
2070442
ClinVar RCV Id:
RCV002959089
dbSNP Id:
rs745435577
ExAC:
19:7592432 C / T
gnomAD v2:
19-7592432-C-T
gnomAD v3:
19-7527546-C-T
gnomAD v4:
19-7527546-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527546C>T , CM000681.2:g.7527546C>T | GRCh38 |
| NC_000019.9:g.7592432C>T , CM000681.1:g.7592432C>T | GRCh37 |
| NC_000019.8:g.7498432C>T | NCBI36 |
| NG_015806.1:g.9937C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.598C>T MANE Select | ENSP00000264079.5:p.Arg200Trp | |
| ENST00000264079.10:c.598C>T | ENSP00000264079.5:p.Arg200Trp | |
| ENST00000394321.9:n.678C>T | ||
| ENST00000598406.1:n.419C>T | ||
| ENST00000601003.1:c.572-318C>T | ENSP00000469074.1:n.572-318C>T | |
| NM_020533.2:c.598C>T | NP_065394.1:p.Arg200Trp | |
| NM_020533.3:c.598C>T MANE Select | NP_065394.1:p.Arg200Trp |