Linked Data
ClinVar Variation Id:
10180
ClinVar RCV Id:
RCV000010893
dbSNP Id:
rs137852397
PubMed:
PMID:1924291
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154987237C>A , CM000685.2:g.154987237C>A | GRCh38 |
| NC_000023.10:g.154215512C>A , CM000685.1:g.154215512C>A | GRCh37 |
| NC_000023.9:g.153868706C>A | NCBI36 |
| NG_011403.1:g.40487G>T | |
| NG_011403.2:g.40487G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.670G>T MANE Select | ENSP00000353393.4:p.Gly224Trp | |
| ENST00000647125.1:c.*456G>T | ENSP00000496062.1:n.*456G>T | |
| ENST00000360256.8:c.670G>T | ENSP00000353393.4:p.Gly224Trp | |
| ENST00000423959.5:c.565G>T | ENSP00000409446.1:p.Gly189Trp | |
| NM_000132.3:c.670G>T | NP_000123.1:p.Gly224Trp | |
| XM_011531126.1:c.565G>T | XP_011529428.1:p.Gly189Trp | |
| NM_000132.4:c.670G>T MANE Select | NP_000123.1:p.Gly224Trp |