Linked Data
ClinVar Variation Id:
16806
ClinVar RCV Id:
RCV000018297
dbSNP Id:
rs267606768
gnomAD v3:
16-72022386-C-T
gnomAD v4:
16-72022386-C-T
COSMIC:
COSM1379668
PubMed:
PMID:19915526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72022386C>T , CM000678.2:g.72022386C>T | GRCh38 |
| NC_000016.9:g.72056285C>T , CM000678.1:g.72056285C>T | GRCh37 |
| NC_000016.8:g.70613786C>T | NCBI36 |
| NG_016271.1:g.18643C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219240.9:c.730C>T MANE Select | ENSP00000219240.4:p.Arg244Trp | |
| ENST00000219240.8:c.730C>T | ENSP00000219240.4:p.Arg244Trp | |
| ENST00000571392.1:n.1485-779C>T | ||
| ENST00000572887.5:c.730C>T | ENSP00000461848.1:p.Arg244Trp | |
| ENST00000573922.5:n.314-779C>T | ||
| ENST00000574309.5:c.514-1759C>T | ||
| NM_001361.4:c.730C>T | NP_001352.2:p.Arg244Trp | |
| XM_005255827.2:c.646C>T | XP_005255884.1:p.Arg216Trp | |
| XM_005255828.3:c.322C>T | XP_005255885.1:p.Arg108Trp | |
| XM_005255829.2:c.301C>T | XP_005255886.1:p.Arg101Trp | |
| XM_005255827.4:c.646C>T | XP_005255884.1:p.Arg216Trp | |
| XM_005255829.4:c.301C>T | XP_005255886.1:p.Arg101Trp | |
| XM_017022990.2:c.403C>T | XP_016878479.1:p.Arg135Trp | |
| NM_001361.5:c.730C>T MANE Select | NP_001352.2:p.Arg244Trp |