Linked Data
ClinVar Variation Id:
445
dbSNP Id:
rs121908250
ExAC:
18:57147460 A / T
gnomAD v2:
18-57147460-A-T
gnomAD v3:
18-59480228-A-T
gnomAD v4:
18-59480228-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59480228A>T , CM000680.2:g.59480228A>T | GRCh38 |
| NC_000018.9:g.57147460A>T , CM000680.1:g.57147460A>T | GRCh37 |
| NC_000018.8:g.55298440A>T | NCBI36 |
| NG_016990.1:g.222185T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000589419.2:n.226T>A | ||
| ENST00000650467.2:c.223T>A | ENSP00000496897.2:p.Cys75Ser | |
| ENST00000695903.1:c.223T>A | ENSP00000512255.1:p.Cys75Ser | |
| ENST00000695904.1:c.223T>A | ENSP00000512259.1:p.Cys75Ser | |
| ENST00000439986.9:c.223T>A MANE Select | ENSP00000404464.2:p.Cys75Ser | |
| ENST00000649564.1:c.223T>A | ENSP00000497183.1:p.Cys75Ser | |
| ENST00000650467.1:c.101T>A | ||
| ENST00000398179.3:c.13T>A | ENSP00000381241.3:p.Cys5Ser | |
| ENST00000439986.8:c.223T>A | ENSP00000404464.2:p.Cys75Ser | |
| ENST00000589419.1:c.-351T>A | ENSP00000467710.1:n.-351T>A | |
| NM_133459.3:c.223T>A | NP_597716.1:p.Cys75Ser | |
| XM_005266648.2:c.223T>A | XP_005266705.1:p.Cys75Ser | |
| NM_133459.4:c.223T>A MANE Select | NP_597716.1:p.Cys75Ser | |
| XM_017025556.1:c.223T>A | XP_016881045.1:p.Cys75Ser | |
| XM_017025557.1:c.223T>A | XP_016881046.1:p.Cys75Ser | |
| XM_017025558.1:c.223T>A | XP_016881047.1:p.Cys75Ser | |
| XM_024451091.1:c.223T>A | XP_024306859.1:p.Cys75Ser | |
| XR_001753142.1:n.1062T>A |