Linked Data
dbSNP Id:
rs147310705
ExAC:
11:1908774 A / T
gnomAD v2:
11-1908774-A-T
gnomAD v3:
11-1887544-A-T
gnomAD v4:
11-1887544-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1887544A>T , CM000673.2:g.1887544A>T | GRCh38 |
| NC_000011.9:g.1908774A>T , CM000673.1:g.1908774A>T | GRCh37 |
| NC_000011.8:g.1865350A>T | NCBI36 |
| NG_011509.1:g.39575A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311604.8:c.1001A>T MANE Select | ENSP00000308383.4:p.Glu334Val | |
| ENST00000311604.7:c.1001A>T | ENSP00000308383.3:p.Glu334Val | |
| ENST00000381775.5:c.1385A>T | ENSP00000371194.1:p.Glu462Val | |
| ENST00000405957.6:c.815A>T | ENSP00000383932.2:p.Glu272Val | |
| ENST00000406638.6:c.815A>T | ENSP00000384022.2:p.Glu272Val | |
| ENST00000472974.5:n.871A>T | ||
| ENST00000485341.5:n.1497A>T | ||
| ENST00000612798.4:c.815A>T | ENSP00000484140.1:p.Glu272Val | |
| NM_001013253.1:c.815A>T | NP_001013271.1:p.Glu272Val | |
| NM_001013254.1:c.815A>T | NP_001013272.1:p.Glu272Val | |
| NM_001013255.1:c.815A>T | NP_001013273.1:p.Glu272Val | |
| NM_001242932.1:c.1385A>T | NP_001229861.1:p.Glu462Val | |
| NM_001289005.1:c.815A>T | NP_001275934.1:p.Glu272Val | |
| NM_002339.2:c.1001A>T | NP_002330.1:p.Glu334Val | |
| NM_001013253.2:c.815A>T | NP_001013271.1:p.Glu272Val | |
| NM_002339.3:c.1001A>T MANE Select | NP_002330.1:p.Glu334Val | |
| NM_001242932.2:c.1385A>T | NP_001229861.1:p.Glu462Val | |
| NM_001289005.2:c.815A>T | NP_001275934.1:p.Glu272Val |