Linked Data
ClinVar Variation Id:
156564
dbSNP Id:
rs201835496
ExAC:
20:5283308 C / G
gnomAD v2:
20-5283308-C-G
gnomAD v3:
20-5302662-C-G
gnomAD v4:
20-5302662-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5302662C>G , CM000682.2:g.5302662C>G | GRCh38 |
| NC_000020.10:g.5283308C>G , CM000682.1:g.5283308C>G | GRCh37 |
| NC_000020.9:g.5231308C>G | NCBI36 |
| NG_008132.1:g.16708G>C | |
| NG_008132.2:g.16708G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217270.4:c.533G>C | ENSP00000217270.3:p.Trp178Ser | |
| ENST00000678059.1:c.425G>C | ENSP00000503366.1:p.Trp142Ser | |
| ENST00000678254.1:c.533G>C MANE Select | ENSP00000504128.1:p.Trp178Ser | |
| ENST00000217270.3:c.533G>C | ENSP00000217270.3:p.Trp178Ser | |
| NM_144773.2:c.533G>C | NP_658986.1:p.Trp178Ser | |
| XM_005260663.2:c.533G>C | XP_005260720.1:p.Trp178Ser | |
| XM_011529159.1:c.425G>C | XP_011527461.1:p.Trp142Ser | |
| NM_144773.3:c.533G>C | NP_658986.1:p.Trp178Ser | |
| XM_017027646.1:c.533G>C | XP_016883135.1:p.Trp178Ser | |
| NM_144773.4:c.533G>C MANE Select | NP_658986.1:p.Trp178Ser |