Linked Data
dbSNP Id:
rs749893181
ExAC:
2:225368483 A / C
gnomAD v2:
2-225368483-A-C
gnomAD v4:
2-224503766-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224503766A>C , CM000664.2:g.224503766A>C | GRCh38 |
| NC_000002.11:g.225368483A>C , CM000664.1:g.225368483A>C | GRCh37 |
| NC_000002.10:g.225076727A>C | NCBI36 |
| NG_032169.1:g.86632T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264414.9:c.1263T>G MANE Select | ENSP00000264414.4:p.Phe421Leu | |
| ENST00000264414.8:c.1263T>G | ENSP00000264414.4:p.Phe421Leu | |
| ENST00000344951.8:c.1065T>G | ENSP00000343601.4:p.Phe355Leu | |
| ENST00000409096.5:c.1191T>G | ENSP00000387200.1:p.Phe397Leu | |
| ENST00000409777.5:c.1191T>G | ENSP00000386525.1:p.Phe397Leu | |
| ENST00000481135.1:n.559T>G | ||
| ENST00000617432.4:c.-14T>G | ENSP00000477851.1:n.-14T>G | |
| NM_001257197.1:c.1065T>G | NP_001244126.1:p.Phe355Leu | |
| NM_001257198.1:c.1281T>G | NP_001244127.1:p.Phe427Leu | |
| NM_003590.4:c.1263T>G | NP_003581.1:p.Phe421Leu | |
| XM_006712800.2:c.1230T>G | XP_006712863.2:p.Phe410Leu | |
| XM_011511994.1:c.1116T>G | XP_011510296.1:p.Phe372Leu | |
| XM_011511995.1:c.1221T>G | XP_011510297.1:p.Phe407Leu | |
| XM_011511996.1:c.1071T>G | XP_011510298.1:p.Phe357Leu | |
| XM_011511997.1:c.963T>G | XP_011510299.1:p.Phe321Leu | |
| XM_011511994.3:c.1116T>G | XP_011510296.1:p.Phe372Leu | |
| XM_011511996.2:c.1071T>G | XP_011510298.1:p.Phe357Leu | |
| NM_003590.5:c.1263T>G MANE Select | NP_003581.1:p.Phe421Leu | |
| NM_001257198.2:c.1281T>G | NP_001244127.1:p.Phe427Leu | |
| NM_001257197.2:c.1065T>G | NP_001244126.1:p.Phe355Leu |