Linked Data
ClinVar Variation Id:
10304
ClinVar RCV Id:
RCV000011017
dbSNP Id:
rs137852453
gnomAD v4:
X-154902120-G-A
ERepo:
CA255197/MONDO:0010602/071
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154902120G>A , CM000685.2:g.154902120G>A | GRCh38 |
| NC_000023.10:g.154130395G>A , CM000685.1:g.154130395G>A | GRCh37 |
| NC_000023.9:g.153783589G>A | NCBI36 |
| NG_011403.1:g.125604C>T | |
| NG_011403.2:g.125604C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6046C>T MANE Select | ENSP00000353393.4:p.Arg2016Trp | |
| ENST00000360256.8:c.6046C>T | ENSP00000353393.4:p.Arg2016Trp | |
| NM_000132.3:c.6046C>T | NP_000123.1:p.Arg2016Trp | |
| XM_011531126.1:c.5941C>T | XP_011529428.1:p.Arg1981Trp | |
| NM_000132.4:c.6046C>T MANE Select | NP_000123.1:p.Arg2016Trp |