Linked Data
ClinVar Variation Id:
417760
dbSNP Id:
rs1028534806
gnomAD v4:
22-17592721-G-A
PubMed:
PMID:28065471
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17592721G>A , CM000684.2:g.17592721G>A | GRCh38 |
| NC_000022.10:g.18075487G>A , CM000684.1:g.18075487G>A | GRCh37 |
| NC_000022.9:g.16455487G>A | NCBI36 |
| NG_009214.1:g.41102C>T | |
| NG_009214.2:g.41102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253413.10:c.634C>T MANE Select | ENSP00000253413.5:p.Arg212Trp | |
| ENST00000253413.9:c.634C>T | ENSP00000253413.5:p.Arg212Trp | |
| ENST00000399796.6:c.544C>T | ENSP00000382694.2:p.Arg182Trp | |
| ENST00000399798.6:c.568C>T | ENSP00000382696.2:p.Arg190Trp | |
| ENST00000473248.1:n.780C>T | ||
| NM_001039366.1:c.568C>T | NP_001034455.1:p.Arg190Trp | |
| NM_001039367.1:c.544C>T | NP_001034456.1:p.Arg182Trp | |
| NM_001696.3:c.634C>T | NP_001687.1:p.Arg212Trp | |
| NM_001696.4:c.634C>T MANE Select | NP_001687.1:p.Arg212Trp |