Linked Data
dbSNP Id:
rs201419685
ExAC:
9:133364775 G / C
gnomAD v2:
9-133364775-G-C
gnomAD v4:
9-130489388-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489388G>C , CM000671.2:g.130489388G>C | GRCh38 |
| NC_000009.11:g.133364775G>C , CM000671.1:g.133364775G>C | GRCh37 |
| NC_000009.10:g.132354596G>C | NCBI36 |
| NG_011542.1:g.49682G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.894G>C MANE Select | ENSP00000253004.6:p.Glu298Asp | |
| ENST00000352480.9:c.894G>C | ENSP00000253004.6:p.Glu298Asp | |
| ENST00000372386.6:n.165G>C | ||
| ENST00000372393.7:c.894G>C | ENSP00000361469.2:p.Glu298Asp | |
| ENST00000372394.5:c.894G>C | ENSP00000361471.1:p.Glu298Asp | |
| ENST00000470849.4:n.619G>C | ||
| ENST00000492400.5:n.403G>C | ||
| ENST00000493984.6:n.671G>C | ||
| NM_000050.4:c.894G>C | NP_000041.2:p.Glu298Asp | |
| NM_054012.3:c.894G>C | NP_446464.1:p.Glu298Asp | |
| XM_005272200.2:c.894G>C | XP_005272257.1:p.Glu298Asp | |
| XM_011518705.1:c.1008G>C | XP_011517007.1:p.Glu336Asp | |
| XM_005272200.3:c.894G>C | XP_005272257.1:p.Glu298Asp | |
| XM_011518705.2:c.1008G>C | XP_011517007.1:p.Glu336Asp | |
| XM_017014729.1:c.990G>C | XP_016870218.1:p.Glu330Asp | |
| NM_054012.4:c.894G>C MANE Select | NP_446464.1:p.Glu298Asp |