Linked Data
ClinVar Variation Id:
219
dbSNP Id:
rs121964904
ExAC:
4:178359918 C / G
gnomAD v2:
4-178359918-C-G
gnomAD v3:
4-177438764-C-G
gnomAD v4:
4-177438764-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177438764C>G , CM000666.2:g.177438764C>G | GRCh38 |
| NC_000004.11:g.178359918C>G , CM000666.1:g.178359918C>G | GRCh37 |
| NC_000004.10:g.178596912C>G | NCBI36 |
| NG_011845.2:g.8740G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.488G>C MANE Select | ENSP00000264595.2:p.Cys163Ser | |
| ENST00000264595.6:c.488G>C | ENSP00000264595.2:p.Cys163Ser | |
| ENST00000502310.5:c.143G>C | ENSP00000423798.1:p.Cys48Ser | |
| ENST00000506853.5:n.522G>C | ||
| ENST00000510635.1:c.184G>C | ||
| ENST00000510955.5:n.409G>C | ||
| NM_000027.3:c.488G>C | NP_000018.2:p.Cys163Ser | |
| NM_001171988.1:c.488G>C | NP_001165459.1:p.Cys163Ser | |
| NR_033655.1:n.616G>C | ||
| XM_006714123.2:c.488G>C | XP_006714186.1:p.Cys163Ser | |
| XR_001741155.2:n.582G>C | ||
| NM_000027.4:c.488G>C MANE Select | NP_000018.2:p.Cys163Ser | |
| NM_001171988.2:c.488G>C | NP_001165459.1:p.Cys163Ser | |
| NR_033655.2:n.550G>C |