Linked Data
ClinVar Variation Id:
905910
dbSNP Id:
rs202051939
ExAC:
4:995783 C / G
gnomAD v2:
4-995783-C-G
gnomAD v3:
4-1001995-C-G
gnomAD v4:
4-1001995-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001995C>G , CM000666.2:g.1001995C>G | GRCh38 |
| NC_000004.11:g.995783C>G , CM000666.1:g.995783C>G | GRCh37 |
| NC_000004.10:g.985783C>G | NCBI36 |
| NG_008103.1:g.19999C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.806C>G | ENSP00000247933.4:p.Ser269Cys | |
| ENST00000514224.2:c.806C>G MANE Select | ENSP00000425081.2:p.Ser269Cys | |
| ENST00000652070.1:n.862C>G | ||
| ENST00000247933.8:c.806C>G | ENSP00000247933.4:p.Ser269Cys | |
| ENST00000502910.5:c.665C>G | ENSP00000422952.1:p.Ser222Cys | |
| ENST00000514192.5:c.623C>G | ENSP00000423685.1:p.Ser208Cys | |
| ENST00000514224.1:c.410C>G | ENSP00000425081.1:p.Ser137Cys | |
| ENST00000514698.5:n.806C>G | ||
| NM_000203.4:c.806C>G | NP_000194.2:p.Ser269Cys | |
| NR_110313.1:n.894C>G | ||
| XM_006713882.2:c.410C>G | XP_006713945.1:p.Ser137Cys | |
| XM_011513459.1:c.765C>G | XP_011511761.1:p.Leu255= | |
| XM_011513460.1:c.665C>G | XP_011511762.1:p.Ser222Cys | |
| XM_011513461.1:c.599C>G | XP_011511763.1:p.Ser200Cys | |
| XM_011513462.1:c.518C>G | XP_011511764.1:p.Ser173Cys | |
| XM_011513463.1:c.518C>G | XP_011511765.1:p.Ser173Cys | |
| XR_924947.1:n.875C>G | ||
| NM_000203.5:c.806C>G MANE Select | NP_000194.2:p.Ser269Cys | |
| NM_001363576.1:c.410C>G | NP_001350505.1:p.Ser137Cys | |
| XM_011513461.2:c.599C>G | XP_011511763.1:p.Ser200Cys | |
| XM_017008163.1:c.-155C>G | XP_016863652.1:n.-155C>G |