Linked Data
dbSNP Id:
rs1275439825
gnomAD v2:
9-139399235-C-G
gnomAD v3:
9-136504783-C-G
gnomAD v4:
9-136504783-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504783C>G , CM000671.2:g.136504783C>G | GRCh38 |
| NC_000009.11:g.139399235C>G , CM000671.1:g.139399235C>G | GRCh37 |
| NC_000009.10:g.138519056C>G | NCBI36 |
| NG_007458.1:g.46004G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2715G>C | ||
| ENST00000651671.1:c.4908G>C MANE Select | ENSP00000498587.1:p.Glu1636Asp | |
| ENST00000679595.1:c.4908G>C | ENSP00000506241.1:p.Glu1636Asp | |
| ENST00000680133.1:c.4794G>C | ENSP00000505319.1:p.Glu1598Asp | |
| ENST00000680218.1:c.4788G>C | ENSP00000505339.1:p.Glu1596Asp | |
| ENST00000680668.1:c.4794G>C | ENSP00000506336.1:p.Glu1598Asp | |
| ENST00000680778.1:c.2505G>C | ENSP00000506033.1:p.Glu835Asp | |
| ENST00000680924.1:c.*2308G>C | ENSP00000506031.1:n.*2308G>C | |
| ENST00000681135.1:c.*2517G>C | ENSP00000506636.1:n.*2517G>C | |
| ENST00000681298.1:n.1721G>C | ||
| ENST00000681454.1:c.*4144G>C | ENSP00000505763.1:n.*4144G>C | |
| ENST00000277541.6:c.4908G>C | ENSP00000277541.6:p.Glu1636Asp | |
| ENST00000494783.1:n.63G>C | ||
| NM_017617.3:c.4908G>C | NP_060087.3:p.Glu1636Asp | |
| XM_011518717.1:c.4209G>C | XP_011517019.1:p.Glu1403Asp | |
| NM_017617.5:c.4908G>C MANE Select | NP_060087.3:p.Glu1636Asp | |
| XM_011518717.2:c.4185G>C | XP_011517019.2:p.Glu1395Asp |