Linked Data
ClinVar Variation Id:
893356
ClinVar RCV Id:
RCV001131222
dbSNP Id:
rs746356009
gnomAD v2:
19-7594494-C-T
gnomAD v3:
19-7529608-C-T
gnomAD v4:
19-7529608-C-T
COSMIC:
COSM3836140
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529608C>T , CM000681.2:g.7529608C>T | GRCh38 |
| NC_000019.9:g.7594494C>T , CM000681.1:g.7594494C>T | GRCh37 |
| NC_000019.8:g.7500494C>T | NCBI36 |
| NG_013374.1:g.457C>T | |
| NG_015806.1:g.11999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1255C>T MANE Select | ENSP00000264079.5:p.Arg419Trp | |
| ENST00000264079.10:c.1255C>T | ENSP00000264079.5:p.Arg419Trp | |
| ENST00000394321.9:n.1570C>T | ||
| ENST00000594692.1:n.251C>T | ||
| ENST00000595860.5:n.438C>T | ||
| ENST00000599334.1:c.132C>T | ||
| NM_020533.2:c.1255C>T | NP_065394.1:p.Arg419Trp | |
| NM_020533.3:c.1255C>T MANE Select | NP_065394.1:p.Arg419Trp |