Linked Data
ClinVar Variation Id:
2202890
ClinVar RCV Id:
RCV002634322
dbSNP Id:
rs750332447
ExAC:
1:179533838 C / G
gnomAD v2:
1-179533838-C-G
gnomAD v4:
1-179564703-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179564703C>G , CM000663.2:g.179564703C>G | GRCh38 |
| NC_000001.10:g.179533838C>G , CM000663.1:g.179533838C>G | GRCh37 |
| NC_000001.9:g.177800461C>G | NCBI36 |
| NG_007535.1:g.16247G>C , LRG_887:g.16247G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367615.9:c.365G>C MANE Select | ENSP00000356587.4:p.Trp122Ser | |
| ENST00000367615.8:c.365G>C | ENSP00000356587.4:p.Trp122Ser | |
| ENST00000367616.4:c.365G>C | ENSP00000356588.4:p.Trp122Ser | |
| NM_001297575.1:c.365G>C | NP_001284504.1:p.Trp122Ser | |
| NM_014625.3:c.365G>C , LRG_887t1:c.365G>C | NP_055440.1:p.Trp122Ser | |
| XM_005245483.2:c.275-4942G>C | XP_005245540.1:n.275-4942G>C | |
| XM_006711529.2:c.365G>C | XP_006711592.1:p.Trp122Ser | |
| XM_005245483.3:c.275-4942G>C | XP_005245540.1:n.275-4942G>C | |
| XM_017002298.1:c.365G>C | XP_016857787.1:p.Trp122Ser | |
| XM_017002299.1:c.365G>C | XP_016857788.1:p.Trp122Ser | |
| NM_001297575.2:c.365G>C | NP_001284504.1:p.Trp122Ser | |
| NM_014625.4:c.365G>C MANE Select | NP_055440.1:p.Trp122Ser |