dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
7.9e-7 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
3e-7 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.185994877A>T , CM000663.2:g.185994877A>T | GRCh38 |
| NC_000001.10:g.185964009A>T , CM000663.1:g.185964009A>T | GRCh37 |
| NC_000001.9:g.184230632A>T | NCBI36 |
| NG_011841.1:g.265327A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.3568A>T MANE Select | ENSP00000271588.4:p.Ile1190Phe | |
| ENST00000271588.8:c.3568A>T | ENSP00000271588.4:p.Ile1190Phe | |
| NM_031935.2:c.3568A>T | NP_114141.2:p.Ile1190Phe | |
| XM_011510037.1:c.3568A>T | XP_011508339.1:p.Ile1190Phe | |
| XM_011510038.1:c.3568A>T | XP_011508340.1:p.Ile1190Phe | |
| XM_011510039.1:c.3568A>T | XP_011508341.1:p.Ile1190Phe | |
| XM_011510040.1:c.3568A>T | XP_011508342.1:p.Ile1190Phe | |
| XM_011510041.1:c.3568A>T | XP_011508343.1:p.Ile1190Phe | |
| XM_011510038.3:c.3568A>T | XP_011508340.1:p.Ile1190Phe | |
| XM_011510041.3:c.3568A>T | XP_011508343.1:p.Ile1190Phe | |
| XM_017002437.1:c.1591A>T | XP_016857926.1:p.Ile531Phe | |
| XM_024450118.1:c.3568A>T | XP_024305886.1:p.Ile1190Phe | |
| NM_031935.3:c.3568A>T MANE Select | NP_114141.2:p.Ile1190Phe |