Linked Data
dbSNP Id:
rs202043603
ExAC:
19:50364740 T / C
gnomAD v3:
19-49861483-T-C
gnomAD v4:
19-49861483-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861483T>C , CM000681.2:g.49861483T>C | GRCh38 |
| NC_000019.9:g.50364740T>C , CM000681.1:g.50364740T>C | GRCh37 |
| NC_000019.8:g.55056552T>C | NCBI36 |
| NG_027717.1:g.11083A>G | |
| NG_050666.1:g.17640T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1414A>G MANE Select | ENSP00000323511.2:p.Ile472Val | |
| ENST00000636840.1:c.59+125A>G | ||
| ENST00000640501.1:c.20A>G | ||
| ENST00000322344.7:c.1414A>G | ENSP00000323511.2:p.Ile472Val | |
| ENST00000593946.5:c.*1341A>G | ENSP00000468896.1:n.*1341A>G | |
| ENST00000594661.5:n.1915A>G | ||
| ENST00000595081.5:n.317A>G | ||
| ENST00000596014.5:c.1414A>G | ENSP00000472300.1:p.Ile472Val | |
| ENST00000597965.2:c.121A>G | ENSP00000471097.2:p.Ile41Val | |
| ENST00000599454.5:n.334A>G | ||
| ENST00000600573.5:c.1321A>G | ENSP00000469826.1:p.Ile441Val | |
| ENST00000600910.5:c.1304A>G | ENSP00000473137.1:p.Tyr435Cys | |
| ENST00000601816.3:n.486A>G | ||
| ENST00000625216.2:c.495A>G | ENSP00000486898.1:n.495A>G | |
| ENST00000627232.2:c.1334A>G | ENSP00000486037.1:n.1334A>G | |
| ENST00000631020.2:c.1306A>G | ENSP00000486707.1:p.Ile436Val | |
| NM_007254.3:c.1414A>G | NP_009185.2:p.Ile472Val | |
| NM_007254.4:c.1414A>G MANE Select | NP_009185.2:p.Ile472Val |