Linked Data
dbSNP Id:
rs778963342
ExAC:
18:43667423 C / A
gnomAD v2:
18-43667423-C-A
gnomAD v4:
18-46087457-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46087457C>A , CM000680.2:g.46087457C>A | GRCh38 |
| NC_000018.9:g.43667423C>A , CM000680.1:g.43667423C>A | GRCh37 |
| NC_000018.8:g.41921421C>A | NCBI36 |
| NG_041769.1:g.21777G>T | |
| NG_041769.2:g.26777G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398752.11:c.835G>T MANE Select | ENSP00000381736.5:p.Ala279Ser | |
| ENST00000282050.6:c.835G>T | ENSP00000282050.2:p.Ala279Ser | |
| ENST00000398752.10:c.835G>T | ENSP00000381736.5:p.Ala279Ser | |
| ENST00000586523.1:n.1240G>T | ||
| ENST00000586592.5:c.*898G>T | ENSP00000466275.3:n.*898G>T | |
| ENST00000589252.5:c.568G>T | ENSP00000466975.1:p.Ala190Ser | |
| ENST00000590156.5:c.*731G>T | ENSP00000466309.1:n.*731G>T | |
| ENST00000590665.5:c.769G>T | ENSP00000467037.1:p.Ala257Ser | |
| ENST00000592364.5:c.227-393G>T | ENSP00000468618.1:n.227-393G>T | |
| ENST00000593152.6:c.685G>T | ENSP00000465477.2:p.Ala229Ser | |
| NM_001001935.2:c.685G>T | NP_001001935.1:p.Ala229Ser | |
| NM_001001937.1:c.835G>T | NP_001001937.1:p.Ala279Ser | |
| NM_001257334.1:c.769G>T | NP_001244263.1:p.Ala257Ser | |
| NM_001257335.1:c.685G>T | NP_001244264.1:p.Ala229Ser | |
| NM_004046.5:c.835G>T | NP_004037.1:p.Ala279Ser | |
| XM_011526018.1:c.685G>T | XP_011524320.1:p.Ala229Ser | |
| XM_017025789.1:c.835G>T | XP_016881278.1:p.Ala279Ser | |
| NM_004046.6:c.835G>T MANE Select | NP_004037.1:p.Ala279Ser | |
| NM_001001935.3:c.685G>T | NP_001001935.1:p.Ala229Ser | |
| NM_001257334.2:c.769G>T | NP_001244263.1:p.Ala257Ser | |
| NM_001001937.2:c.835G>T | NP_001001937.1:p.Ala279Ser | |
| NM_001257335.2:c.685G>T | NP_001244264.1:p.Ala229Ser |