Linked Data
dbSNP Id:
rs767141052
ExAC:
1:94473852 A / G
gnomAD v2:
1-94473852-A-G
gnomAD v3:
1-94008296-A-G
gnomAD v4:
1-94008296-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94008296A>G , CM000663.2:g.94008296A>G | GRCh38 |
| NC_000001.10:g.94473852A>G , CM000663.1:g.94473852A>G | GRCh37 |
| NC_000001.9:g.94246440A>G | NCBI36 |
| NG_009073.1:g.117854T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5837T>C MANE Select | ENSP00000359245.3:p.Ile1946Thr | |
| ENST00000370225.3:c.5837T>C | ENSP00000359245.3:p.Ile1946Thr | |
| ENST00000465352.1:n.253T>C | ||
| ENST00000536513.5:c.2213T>C | ENSP00000439707.2:p.Ile738Thr | |
| NM_000350.2:c.5837T>C | NP_000341.2:p.Ile1946Thr | |
| NM_000350.3:c.5837T>C MANE Select | NP_000341.2:p.Ile1946Thr |