Linked Data
ClinVar Variation Id:
417988
ClinVar RCV Id:
RCV000485764
dbSNP Id:
rs1064793010
gnomAD v3:
1-94041342-A-G
gnomAD v4:
1-94041342-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041342A>G , CM000663.2:g.94041342A>G | GRCh38 |
| NC_000001.10:g.94506898A>G , CM000663.1:g.94506898A>G | GRCh37 |
| NC_000001.9:g.94279486A>G | NCBI36 |
| NG_009073.1:g.84808T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.3389T>C MANE Select | ENSP00000359245.3:p.Ile1130Thr | |
| ENST00000370225.3:c.3389T>C | ENSP00000359245.3:p.Ile1130Thr | |
| ENST00000536513.5:c.-64-1253T>C | ENSP00000439707.2:n.-64-1253T>C | |
| NM_000350.2:c.3389T>C | NP_000341.2:p.Ile1130Thr | |
| NM_000350.3:c.3389T>C MANE Select | NP_000341.2:p.Ile1130Thr |