Linked Data
ClinVar Variation Id:
2724028
ClinVar RCV Id:
RCV003497038
dbSNP Id:
rs754566830
ExAC:
16:88901637 A / T
gnomAD v2:
16-88901637-A-T
gnomAD v4:
16-88835229-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88835229A>T , CM000678.2:g.88835229A>T | GRCh38 |
| NC_000016.9:g.88901637A>T , CM000678.1:g.88901637A>T | GRCh37 |
| NC_000016.8:g.87429138A>T | NCBI36 |
| NG_008667.1:g.26738T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.882T>A MANE Select | ENSP00000268695.5:p.Ile294= | |
| ENST00000268695.9:c.882T>A | ENSP00000268695.5:p.Ile294= | |
| ENST00000562593.5:n.4291T>A | ||
| ENST00000562931.5:n.470T>A | ||
| ENST00000567525.5:c.563T>A | ENSP00000454484.1:n.563T>A | |
| ENST00000568613.5:c.1001T>A | ENSP00000457921.1:n.1001T>A | |
| NM_000512.4:c.882T>A | NP_000503.1:p.Ile294= | |
| XM_005256301.2:c.882T>A | XP_005256358.1:p.Ile294= | |
| XM_005256302.1:c.900T>A | XP_005256359.1:p.Ile300= | |
| XM_011522982.1:c.900T>A | XP_011521284.1:p.Ile300= | |
| XM_011522984.1:c.900T>A | XP_011521286.1:p.Ile300= | |
| NM_001323543.1:c.327T>A | NP_001310472.1:p.Ile109= | |
| NM_001323544.1:c.900T>A | NP_001310473.1:p.Ile300= | |
| XM_005256301.3:c.882T>A | XP_005256358.1:p.Ile294= | |
| XM_011522982.2:c.900T>A | XP_011521284.1:p.Ile300= | |
| XM_017023111.2:c.900T>A | XP_016878600.1:p.Ile300= | |
| XM_017023112.2:c.900T>A | XP_016878601.1:p.Ile300= | |
| XM_017023113.1:c.327T>A | XP_016878602.1:p.Ile109= | |
| NM_000512.5:c.882T>A MANE Select | NP_000503.1:p.Ile294= | |
| NM_001323543.2:c.327T>A | NP_001310472.1:p.Ile109= | |
| NM_001323544.2:c.900T>A | NP_001310473.1:p.Ile300= |