Linked Data
ClinVar Variation Id:
8923
ClinVar RCV Id:
RCV000009478
RCV000058294
RCV000170971
RCV000763415
RCV000814909
RCV001000954
RCV002415408
dbSNP Id:
rs104894580
gnomAD v4:
17-70175238-C-T
COSMIC:
COSM983653
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175238C>T , CM000679.2:g.70175238C>T | GRCh38 |
| NC_000017.10:g.68171379C>T , CM000679.1:g.68171379C>T | GRCh37 |
| NC_000017.9:g.65682974C>T | NCBI36 |
| NG_008798.1:g.10704C>T , LRG_328:g.10704C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243457.4:c.199C>T MANE Select | ENSP00000243457.2:p.Arg67Trp | |
| ENST00000243457.3:c.199C>T | ENSP00000243457.2:p.Arg67Trp | |
| ENST00000535240.1:c.199C>T | ENSP00000441848.1:p.Arg67Trp | |
| NM_000891.2:c.199C>T , LRG_328t1:c.199C>T | NP_000882.1:p.Arg67Trp | |
| XM_011524779.1:c.199C>T | XP_011523081.1:p.Arg67Trp | |
| NM_000891.3:c.199C>T MANE Select | NP_000882.1:p.Arg67Trp |