Linked Data
ClinVar Variation Id:
30979
dbSNP Id:
rs41281039
ExAC:
9:104192225 T / A
gnomAD v2:
9-104192225-T-A
gnomAD v3:
9-101429943-T-A
gnomAD v4:
9-101429943-T-A
PubMed:
PMID:20848650
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101429943T>A , CM000671.2:g.101429943T>A | GRCh38 |
| NC_000009.11:g.104192225T>A , CM000671.1:g.104192225T>A | GRCh37 |
| NC_000009.10:g.103232046T>A | NCBI36 |
| NG_012387.1:g.10838A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.136A>T MANE Select | ENSP00000497767.1:p.Arg46Trp | |
| ENST00000648064.1:c.136A>T | ENSP00000497990.1:p.Arg46Trp | |
| ENST00000648423.1:c.136A>T | ENSP00000497985.1:p.Arg46Trp | |
| ENST00000648758.1:c.136A>T | ENSP00000497731.1:p.Arg46Trp | |
| ENST00000648906.1:n.306A>T | ||
| ENST00000649902.1:c.136A>T | ENSP00000497216.1:p.Arg46Trp | |
| ENST00000650613.1:n.212A>T | ||
| ENST00000374855.8:c.136A>T | ENSP00000363988.4:p.Arg46Trp | |
| ENST00000616752.1:c.136A>T | ENSP00000481363.1:p.Arg46Trp | |
| NM_000035.3:c.136A>T | NP_000026.2:p.Arg46Trp | |
| NM_000035.4:c.136A>T MANE Select | NP_000026.2:p.Arg46Trp |