Linked Data
ClinVar Variation Id:
298196
ClinVar RCV Id:
RCV000360698
dbSNP Id:
rs551112484
gnomAD v3:
1-92832045-T-A
gnomAD v4:
1-92832045-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92832045T>A , CM000663.2:g.92832045T>A | GRCh38 |
| NC_000001.10:g.93297602T>A , CM000663.1:g.93297602T>A | GRCh37 |
| NC_000001.9:g.93070190T>A | NCBI36 |
| NG_011779.1:g.5009T>A | |
| NG_033051.1:g.134478A>T | |
| NG_011779.2:g.5060T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370321.8:c.-70T>A MANE Select | ENSP00000359345.2:n.-70T>A | |
| ENST00000645300.1:c.-150T>A | ENSP00000495589.1:n.-150T>A | |
| ENST00000370321.7:c.-70T>A | ENSP00000359345.2:n.-70T>A | |
| NM_000969.3:c.-70T>A | NP_000960.2:n.-70T>A | |
| NM_000969.5:c.-70T>A MANE Select | NP_000960.2:n.-70T>A | |
| NR_146333.1:n.60T>A |