Linked Data
ClinVar Variation Id:
433523
dbSNP Id:
rs1481200467
gnomAD v3:
16-16173393-G-C
gnomAD v4:
16-16173393-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16173393G>C , CM000678.2:g.16173393G>C | GRCh38 |
| NC_000016.9:g.16267250G>C , CM000678.1:g.16267250G>C | GRCh37 |
| NC_000016.8:g.16174751G>C | NCBI36 |
| NG_007558.2:g.55079C>G | |
| NG_007558.3:g.55225C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2678C>G | ENSP00000483331.2:p.Ser893Ter | |
| ENST00000205557.12:c.2678C>G MANE Select | ENSP00000205557.7:p.Ser893Ter | |
| ENST00000205557.11:c.2678C>G | ENSP00000205557.7:p.Ser893Ter | |
| ENST00000456970.6:c.2503C>G | ENSP00000405002.2:p.Gln835Glu | |
| ENST00000576683.1:n.165C>G | ||
| ENST00000622290.4:c.2503C>G | ENSP00000483331.1:p.Gln835Glu | |
| NM_001171.5:c.2678C>G | NP_001162.4:p.Ser893Ter | |
| XM_011522479.1:c.2645C>G | XP_011520781.1:p.Ser882Ter | |
| XM_011522480.1:c.2336C>G | XP_011520782.1:p.Ser779Ter | |
| XM_011522481.1:c.2336C>G | XP_011520783.1:p.Ser779Ter | |
| XM_011522482.1:c.*21C>G | XP_011520784.1:n.*21C>G | |
| XR_932836.1:n.2913C>G | ||
| XR_932837.1:n.2914C>G | ||
| XR_932838.1:n.2914C>G | ||
| NM_001351800.1:c.2336C>G | NP_001338729.1:p.Ser779Ter | |
| NR_147784.1:n.2540C>G | ||
| XM_011522479.2:c.2645C>G | XP_011520781.1:p.Ser882Ter | |
| XM_011522481.3:c.2336C>G | XP_011520783.1:p.Ser779Ter | |
| XM_011522482.3:c.*21C>G | XP_011520784.1:n.*21C>G | |
| XM_017023212.1:c.2510C>G | XP_016878701.1:p.Ser837Ter | |
| XM_017023214.1:c.2678C>G | XP_016878703.1:p.Ser893Ter | |
| XM_024450261.1:c.2714C>G | XP_024306029.1:p.Ser905Ter | |
| XR_932836.2:n.2859C>G | ||
| XR_932837.3:n.2859C>G | ||
| XR_932838.3:n.2859C>G | ||
| NM_001171.6:c.2678C>G MANE Select | NP_001162.5:p.Ser893Ter |