Linked Data
ClinVar Variation Id:
7717
dbSNP Id:
rs80338709
ExAC:
16:8941663 G / C
gnomAD v2:
16-8941663-G-C
gnomAD v3:
16-8847806-G-C
gnomAD v4:
16-8847806-G-C
PubMed:
PMID:9140401
PMID:10527672
PMID:10602363
PMID:10854097
PMID:10922383
PMID:11134235
PMID:11156536
PMID:11343337
PMID:11715002
PMID:15844218
PMID:17166182
PMID:17186415
PMID:20301289
PMID:21541725
PMID:24498599
PMID:25355454
PMID:26014514
PMID:26488408
PMID:26805780
PMID:28373276
PMID:28425223
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8847806G>C , CM000678.2:g.8847806G>C | GRCh38 |
| NC_000016.9:g.8941663G>C , CM000678.1:g.8941663G>C | GRCh37 |
| NC_000016.8:g.8849164G>C | NCBI36 |
| NG_009209.1:g.54994G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567697.2:n.3890G>C | ||
| ENST00000682393.1:c.*258-1563G>C | ENSP00000506774.1:n.*258-1563G>C | |
| ENST00000683094.1:c.*262-1563G>C | ENSP00000508230.1:n.*262-1563G>C | |
| ENST00000683274.1:c.*180-1563G>C | ENSP00000507262.1:n.*180-1563G>C | |
| ENST00000683435.1:c.*618G>C | ENSP00000508092.1:n.*618G>C | |
| ENST00000268261.9:c.722G>C MANE Select | ENSP00000268261.4:p.Cys241Ser | |
| ENST00000268261.8:c.722G>C | ENSP00000268261.4:p.Cys241Ser | |
| ENST00000562025.1:n.256G>C | ||
| ENST00000562318.5:c.*444G>C | ENSP00000454395.1:n.*444G>C | |
| ENST00000565221.5:c.*340G>C | ENSP00000457932.1:n.*340G>C | |
| ENST00000566540.5:c.*344G>C | ENSP00000454284.1:n.*344G>C | |
| ENST00000566604.5:c.*262G>C | ENSP00000456774.1:n.*262G>C | |
| ENST00000566983.5:c.641G>C | ENSP00000457956.1:p.Cys214Ser | |
| ENST00000567697.1:n.3890G>C | ||
| ENST00000569958.5:c.449G>C | ENSP00000456302.1:p.Cys150Ser | |
| ENST00000570076.5:c.*180G>C | ENSP00000456961.1:n.*180G>C | |
| NM_000303.2:c.722G>C | NP_000294.1:p.Cys241Ser | |
| XM_005255374.3:c.473G>C | XP_005255431.1:p.Cys158Ser | |
| XM_011522538.1:c.640-7228G>C | XP_011520840.1:n.640-7228G>C | |
| XM_005255374.4:c.473G>C | XP_005255431.1:p.Cys158Ser | |
| NM_000303.3:c.722G>C MANE Select | NP_000294.1:p.Cys241Ser |