Linked Data
dbSNP Id:
rs776784404
ExAC:
14:88442753 G / C
gnomAD v2:
14-88442753-G-C
gnomAD v4:
14-87976409-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87976409G>C , CM000676.2:g.87976409G>C | GRCh38 |
| NC_000014.8:g.88442753G>C , CM000676.1:g.88442753G>C | GRCh37 |
| NC_000014.7:g.87512506G>C | NCBI36 |
| NG_011853.2:g.22155C>G | |
| NG_011853.3:g.22155C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.701C>G MANE Select | ENSP00000261304.2:p.Ser234Cys | |
| ENST00000261304.6:c.701C>G | ENSP00000261304.2:p.Ser234Cys | |
| ENST00000393568.8:c.632C>G | ENSP00000377198.4:p.Ser211Cys | |
| ENST00000393569.6:c.623C>G | ENSP00000377199.2:p.Ser208Cys | |
| ENST00000474294.6:n.691C>G | ||
| ENST00000477716.3:n.456C>G | ||
| ENST00000544807.6:c.533C>G | ENSP00000437513.2:p.Ser178Cys | |
| ENST00000554916.5:n.580C>G | ||
| ENST00000555000.5:c.68C>G | ENSP00000450472.1:p.Ser23Cys | |
| ENST00000557316.5:c.*99C>G | ENSP00000452314.1:n.*99C>G | |
| ENST00000622264.4:c.691C>G | ||
| NM_000153.3:c.701C>G | NP_000144.2:p.Ser234Cys | |
| NM_001201401.1:c.632C>G | NP_001188330.1:p.Ser211Cys | |
| NM_001201402.1:c.623C>G | NP_001188331.1:p.Ser208Cys | |
| XM_011536618.1:c.533C>G | XP_011534920.1:p.Ser178Cys | |
| XM_011536618.2:c.533C>G | XP_011534920.1:p.Ser178Cys | |
| NM_000153.4:c.701C>G MANE Select | NP_000144.2:p.Ser234Cys | |
| NM_001201401.2:c.632C>G | NP_001188330.1:p.Ser211Cys | |
| NM_001201402.2:c.623C>G | NP_001188331.1:p.Ser208Cys |