Linked Data
ClinVar Variation Id:
333110
dbSNP Id:
rs114123906
gnomAD v2:
2-189897720-C-T
gnomAD v3:
2-189032994-C-T
gnomAD v4:
2-189032994-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189032994C>T , CM000664.2:g.189032994C>T | GRCh38 |
| NC_000002.11:g.189897720C>T , CM000664.1:g.189897720C>T | GRCh37 |
| NC_000002.10:g.189605965C>T | NCBI36 |
| NG_011799.1:g.151886G>A | |
| NG_011799.2:g.151886G>A | |
| NG_011799.3:g.197308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.*1076G>A MANE Select | ENSP00000364000.3:n.*1076G>A | |
| ENST00000374866.7:c.*1076G>A | ENSP00000364000.3:n.*1076G>A | |
| ENST00000618828.1:c.*1076G>A | ENSP00000482184.1:n.*1076G>A | |
| NM_000393.3:c.*1076G>A | NP_000384.2:n.*1076G>A | |
| XM_011510573.1:c.*1076G>A | XP_011508875.1:n.*1076G>A | |
| NM_000393.4:c.*1076G>A | NP_000384.2:n.*1076G>A | |
| XM_011510573.3:c.*1076G>A | XP_011508875.1:n.*1076G>A | |
| NM_000393.5:c.*1076G>A MANE Select | NP_000384.2:n.*1076G>A |