Linked Data
dbSNP Id:
rs772289112
ExAC:
19:41209647 G / C
gnomAD v2:
19-41209647-G-C
gnomAD v4:
19-40703742-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40703742G>C , CM000681.2:g.40703742G>C | GRCh38 |
| NC_000019.9:g.41209647G>C , CM000681.1:g.41209647G>C | GRCh37 |
| NC_000019.8:g.45901487G>C | NCBI36 |
| NG_027800.1:g.18144C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324464.8:c.690C>G MANE Select | ENSP00000315118.3:p.Asp230Glu | |
| ENST00000593724.2:n.393-120C>G | ||
| ENST00000594490.6:c.612C>G | ENSP00000471310.2:p.Asp204Glu | |
| ENST00000594720.6:c.690C>G | ENSP00000470876.2:p.Asp230Glu | |
| ENST00000596455.6:n.982C>G | ||
| ENST00000601967.6:c.690C>G | ENSP00000470916.2:p.Asp230Glu | |
| ENST00000676555.1:c.690C>G | ENSP00000503387.1:p.Asp230Glu | |
| ENST00000676578.1:c.*432C>G | ENSP00000504076.1:n.*432C>G | |
| ENST00000676960.1:n.815C>G | ||
| ENST00000676962.1:n.969C>G | ||
| ENST00000677018.1:c.690C>G | ENSP00000503480.1:p.Asp230Glu | |
| ENST00000677039.1:n.745C>G | ||
| ENST00000677399.1:n.1132C>G | ||
| ENST00000677496.1:c.363C>G | ENSP00000504773.1:p.Asp121Glu | |
| ENST00000677517.1:c.363C>G | ENSP00000503519.1:p.Asp121Glu | |
| ENST00000677633.1:c.*113C>G | ENSP00000503645.1:n.*113C>G | |
| ENST00000677800.1:c.*3794C>G | ENSP00000503794.1:n.*3794C>G | |
| ENST00000678057.1:c.*254C>G | ENSP00000503762.1:n.*254C>G | |
| ENST00000678119.1:n.884C>G | ||
| ENST00000678166.1:n.861-120C>G | ||
| ENST00000678312.1:n.1027C>G | ||
| ENST00000678316.1:c.*113C>G | ENSP00000504112.1:n.*113C>G | |
| ENST00000678371.1:n.1048C>G | ||
| ENST00000678404.1:c.690C>G | ENSP00000503944.1:p.Asp230Glu | |
| ENST00000678419.1:c.690C>G | ENSP00000504085.1:p.Asp230Glu | |
| ENST00000678433.1:n.1050C>G | ||
| ENST00000678467.1:c.690C>G | ENSP00000504072.1:p.Asp230Glu | |
| ENST00000678569.1:c.690C>G | ENSP00000504261.1:p.Asp230Glu | |
| ENST00000678961.1:n.873C>G | ||
| ENST00000679002.1:n.869C>G | ||
| ENST00000679012.1:c.246C>G | ENSP00000504446.1:p.Asp82Glu | |
| ENST00000679070.1:c.*113C>G | ENSP00000503759.1:n.*113C>G | |
| ENST00000679130.1:c.690C>G | ENSP00000504845.1:p.Asp230Glu | |
| ENST00000679315.1:c.*520C>G | ENSP00000503065.1:n.*520C>G | |
| ENST00000243583.10:c.567C>G | ENSP00000243583.5:p.Asp189Glu | |
| ENST00000324464.7:c.690C>G | ENSP00000315118.3:p.Asp230Glu | |
| ENST00000595254.5:c.363C>G | ENSP00000470894.1:p.Asp121Glu | |
| ENST00000596455.5:n.810C>G | ||
| ENST00000599643.5:c.336-120C>G | ENSP00000471192.1:n.336-120C>G | |
| ENST00000601304.5:c.*464C>G | ENSP00000472519.1:n.*464C>G | |
| ENST00000601967.5:c.690C>G | ENSP00000470916.1:p.Asp230Glu | |
| NM_001142555.2:c.567C>G | NP_001136027.1:p.Asp189Glu | |
| NM_024876.3:c.690C>G | NP_079152.3:p.Asp230Glu | |
| XM_005259270.3:c.852C>G | XP_005259327.2:p.Asp284Glu | |
| XM_005259271.3:c.690C>G | XP_005259328.1:p.Asp230Glu | |
| XM_005259272.3:c.690C>G | XP_005259329.1:p.Asp230Glu | |
| XM_005259273.3:c.690C>G | XP_005259330.1:p.Asp230Glu | |
| XM_006723392.2:c.690C>G | XP_006723455.1:p.Asp230Glu | |
| XM_006723393.2:c.690C>G | XP_006723456.1:p.Asp230Glu | |
| XM_011527334.1:c.690C>G | XP_011525636.1:p.Asp230Glu | |
| XM_011527335.1:c.577-120C>G | XP_011525637.1:n.577-120C>G | |
| XM_011527336.1:c.720C>G | XP_011525638.1:p.Asp240Glu | |
| XM_011527337.1:c.690C>G | XP_011525639.1:p.Asp230Glu | |
| XM_011527338.1:c.690C>G | XP_011525640.1:p.Asp230Glu | |
| NM_024876.4:c.690C>G MANE Select | NP_079152.3:p.Asp230Glu | |
| NM_001142555.3:c.567C>G | NP_001136027.1:p.Asp189Glu |