Linked Data
dbSNP Id:
rs745487241
ExAC:
4:6302704 G / T
gnomAD v2:
4-6302704-G-T
gnomAD v3:
4-6300977-G-T
gnomAD v4:
4-6300977-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300977G>T , CM000666.2:g.6300977G>T | GRCh38 |
| NC_000004.11:g.6302704G>T , CM000666.1:g.6302704G>T | GRCh37 |
| NC_000004.10:g.6353605G>T | NCBI36 |
| NG_011700.1:g.36128G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1218G>T | ENSP00000507852.1:p.Glu406Asp | |
| ENST00000683395.1:c.1159G>T | ||
| ENST00000684087.1:c.1182G>T | ENSP00000506978.1:p.Glu394Asp | |
| ENST00000506362.2:c.933G>T | ENSP00000424103.2:p.Glu311Asp | |
| ENST00000673642.1:c.841G>T | ENSP00000501242.1:p.Gly281Cys | |
| ENST00000673991.1:c.1218G>T | ENSP00000501033.1:p.Glu406Asp | |
| ENST00000226760.5:c.1182G>T MANE Select | ENSP00000226760.1:p.Glu394Asp | |
| ENST00000503569.5:c.1182G>T | ENSP00000423337.1:p.Glu394Asp | |
| ENST00000507765.1:n.1367G>T | ||
| NM_001145853.1:c.1182G>T | NP_001139325.1:p.Glu394Asp | |
| NM_006005.3:c.1182G>T MANE Select | NP_005996.2:p.Glu394Asp | |
| XM_017008586.1:c.1191G>T | XP_016864075.1:p.Glu397Asp |