Linked Data
dbSNP Id:
rs778135381
ExAC:
18:43667431 G / A
gnomAD v2:
18-43667431-G-A
gnomAD v4:
18-46087465-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46087465G>A , CM000680.2:g.46087465G>A | GRCh38 |
| NC_000018.9:g.43667431G>A , CM000680.1:g.43667431G>A | GRCh37 |
| NC_000018.8:g.41921429G>A | NCBI36 |
| NG_041769.1:g.21769C>T | |
| NG_041769.2:g.26769C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398752.11:c.827C>T MANE Select | ENSP00000381736.5:p.Ser276Leu | |
| ENST00000282050.6:c.827C>T | ENSP00000282050.2:p.Ser276Leu | |
| ENST00000398752.10:c.827C>T | ENSP00000381736.5:p.Ser276Leu | |
| ENST00000586523.1:n.1232C>T | ||
| ENST00000586592.5:c.*890C>T | ENSP00000466275.3:n.*890C>T | |
| ENST00000589252.5:c.560C>T | ENSP00000466975.1:p.Ser187Leu | |
| ENST00000590156.5:c.*723C>T | ENSP00000466309.1:n.*723C>T | |
| ENST00000590665.5:c.761C>T | ENSP00000467037.1:p.Ser254Leu | |
| ENST00000592364.5:c.227-401C>T | ENSP00000468618.1:n.227-401C>T | |
| ENST00000593152.6:c.677C>T | ENSP00000465477.2:p.Ser226Leu | |
| NM_001001935.2:c.677C>T | NP_001001935.1:p.Ser226Leu | |
| NM_001001937.1:c.827C>T | NP_001001937.1:p.Ser276Leu | |
| NM_001257334.1:c.761C>T | NP_001244263.1:p.Ser254Leu | |
| NM_001257335.1:c.677C>T | NP_001244264.1:p.Ser226Leu | |
| NM_004046.5:c.827C>T | NP_004037.1:p.Ser276Leu | |
| XM_011526018.1:c.677C>T | XP_011524320.1:p.Ser226Leu | |
| XM_017025789.1:c.827C>T | XP_016881278.1:p.Ser276Leu | |
| NM_004046.6:c.827C>T MANE Select | NP_004037.1:p.Ser276Leu | |
| NM_001001935.3:c.677C>T | NP_001001935.1:p.Ser226Leu | |
| NM_001257334.2:c.761C>T | NP_001244263.1:p.Ser254Leu | |
| NM_001001937.2:c.827C>T | NP_001001937.1:p.Ser276Leu | |
| NM_001257335.2:c.677C>T | NP_001244264.1:p.Ser226Leu |