Linked Data
ClinVar Variation Id:
1042099
ClinVar RCV Id:
RCV001346000
dbSNP Id:
rs1660700107
gnomAD v4:
1-94046928-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94046928G>A , CM000663.2:g.94046928G>A | GRCh38 |
| NC_000001.10:g.94512484G>A , CM000663.1:g.94512484G>A | GRCh37 |
| NC_000001.9:g.94285072G>A | NCBI36 |
| NG_009073.1:g.79222C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2909C>T MANE Select | ENSP00000359245.3:p.Thr970Ile | |
| ENST00000649773.1:c.2687C>T | ENSP00000496882.1:p.Thr896Ile | |
| ENST00000370225.3:c.2909C>T | ENSP00000359245.3:p.Thr970Ile | |
| ENST00000536513.5:c.-64-6839C>T | ENSP00000439707.2:n.-64-6839C>T | |
| NM_000350.2:c.2909C>T | NP_000341.2:p.Thr970Ile | |
| NM_000350.3:c.2909C>T MANE Select | NP_000341.2:p.Thr970Ile |