Linked Data
ClinVar Variation Id:
333099
ClinVar RCV Id:
RCV000363020
dbSNP Id:
rs886055347
gnomAD v4:
2-189032176-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189032176G>T , CM000664.2:g.189032176G>T | GRCh38 |
| NC_000002.11:g.189896902G>T , CM000664.1:g.189896902G>T | GRCh37 |
| NC_000002.10:g.189605147G>T | NCBI36 |
| NG_011799.1:g.152704C>A | |
| NG_011799.2:g.152704C>A | |
| NG_011799.3:g.198126C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.*1894C>A MANE Select | ENSP00000364000.3:n.*1894C>A | |
| ENST00000374866.7:c.*1894C>A | ENSP00000364000.3:n.*1894C>A | |
| ENST00000618828.1:c.*1894C>A | ENSP00000482184.1:n.*1894C>A | |
| NM_000393.3:c.*1894C>A | NP_000384.2:n.*1894C>A | |
| NM_000393.4:c.*1894C>A | NP_000384.2:n.*1894C>A | |
| NM_000393.5:c.*1894C>A MANE Select | NP_000384.2:n.*1894C>A |