Linked Data
ClinVar Variation Id:
284192
dbSNP Id:
rs151296605
ExAC:
16:88884459 C / A
gnomAD v2:
16-88884459-C-A
gnomAD v3:
16-88818051-C-A
gnomAD v4:
16-88818051-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88818051C>A , CM000678.2:g.88818051C>A | GRCh38 |
| NC_000016.9:g.88884459C>A , CM000678.1:g.88884459C>A | GRCh37 |
| NC_000016.8:g.87411960C>A | NCBI36 |
| NG_008667.1:g.43916G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268695.10:c.1438G>T MANE Select | ENSP00000268695.5:p.Val480Phe | |
| ENST00000268695.9:c.1438G>T | ENSP00000268695.5:p.Val480Phe | |
| ENST00000562593.5:n.4847G>T | ||
| ENST00000567525.5:c.1119G>T | ENSP00000454484.1:n.1119G>T | |
| ENST00000568613.5:c.1557G>T | ENSP00000457921.1:n.1557G>T | |
| NM_000512.4:c.1438G>T | NP_000503.1:p.Val480Phe | |
| XM_005256301.2:c.1438G>T | XP_005256358.1:p.Val480Phe | |
| XM_005256302.1:c.1456G>T | XP_005256359.1:p.Val486Phe | |
| XM_011522982.1:c.1456G>T | XP_011521284.1:p.Val486Phe | |
| XM_011522984.1:c.1456G>T | XP_011521286.1:p.Val486Phe | |
| NM_001323543.1:c.883G>T | NP_001310472.1:p.Val295Phe | |
| NM_001323544.1:c.1456G>T | NP_001310473.1:p.Val486Phe | |
| XM_005256301.3:c.1438G>T | XP_005256358.1:p.Val480Phe | |
| XM_011522982.2:c.1456G>T | XP_011521284.1:p.Val486Phe | |
| XM_017023111.2:c.1456G>T | XP_016878600.1:p.Val486Phe | |
| XM_017023112.2:c.1456G>T | XP_016878601.1:p.Val486Phe | |
| XM_017023113.1:c.883G>T | XP_016878602.1:p.Val295Phe | |
| NM_000512.5:c.1438G>T MANE Select | NP_000503.1:p.Val480Phe | |
| NM_001323543.2:c.883G>T | NP_001310472.1:p.Val295Phe | |
| NM_001323544.2:c.1456G>T | NP_001310473.1:p.Val486Phe |