Linked Data
ClinVar Variation Id:
204849
dbSNP Id:
rs186558364
gnomAD v2:
5-125885928-T-A
gnomAD v3:
5-126550236-T-A
gnomAD v4:
5-126550236-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126550236T>A , CM000667.2:g.126550236T>A | GRCh38 |
| NC_000005.9:g.125885928T>A , CM000667.1:g.125885928T>A | GRCh37 |
| NC_000005.8:g.125913827T>A | NCBI36 |
| NG_008600.2:g.50155A>T | |
| NG_008600.3:g.50155A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1375A>T MANE Select | ENSP00000387123.3:p.Ile459Phe | |
| ENST00000458249.6:c.*1284A>T | ENSP00000403929.1:n.*1284A>T | |
| ENST00000497231.7:n.1802A>T | ||
| ENST00000635851.1:c.1373A>T | ||
| ENST00000636062.1:n.1270A>T | ||
| ENST00000636225.1:c.*1319A>T | ENSP00000490797.1:n.*1319A>T | |
| ENST00000636286.1:n.1093A>T | ||
| ENST00000636482.1:n.862A>T | ||
| ENST00000636743.1:c.1255A>T | ENSP00000489725.1:p.Ile419Phe | |
| ENST00000636808.1:c.*1184A>T | ENSP00000490833.1:n.*1184A>T | |
| ENST00000636872.1:c.1535A>T | ENSP00000490919.1:n.1535A>T | |
| ENST00000636879.1:c.1420A>T | ENSP00000490811.1:p.Ile474Phe | |
| ENST00000636886.1:c.1174A>T | ENSP00000490371.1:p.Ile392Phe | |
| ENST00000637206.1:c.1195A>T | ENSP00000489895.1:p.Ile399Phe | |
| ENST00000637272.1:c.1366A>T | ENSP00000489686.1:p.Ile456Phe | |
| ENST00000637292.1:c.831A>T | ||
| ENST00000637782.1:c.1375A>T | ENSP00000490024.1:p.Ile459Phe | |
| ENST00000638008.1:c.*1219A>T | ENSP00000490400.1:n.*1219A>T | |
| ENST00000638010.1:n.1321A>T | ||
| ENST00000409134.7:c.1375A>T | ENSP00000387123.3:p.Ile459Phe | |
| ENST00000447989.6:c.1264A>T | ENSP00000414132.2:p.Ile422Phe | |
| ENST00000476328.1:n.140A>T | ||
| ENST00000497231.6:n.1585A>T | ||
| ENST00000553117.5:c.1183A>T | ENSP00000448593.1:p.Ile395Phe | |
| NM_001182.4:c.1375A>T | NP_001173.2:p.Ile459Phe | |
| NM_001201377.1:c.1291A>T | NP_001188306.1:p.Ile431Phe | |
| NM_001202404.1:c.1264A>T | NP_001189333.1:p.Ile422Phe | |
| XM_011543417.1:c.970A>T | XP_011541719.1:p.Ile324Phe | |
| XM_011543417.2:c.970A>T | XP_011541719.1:p.Ile324Phe | |
| NM_001182.5:c.1375A>T MANE Select | NP_001173.2:p.Ile459Phe | |
| NM_001201377.2:c.1291A>T | NP_001188306.1:p.Ile431Phe | |
| NM_001202404.2:c.1183A>T | NP_001189333.2:p.Ile395Phe |