Linked Data
ClinVar Variation Id:
127882
dbSNP Id:
rs587780102
ExAC:
17:33446137 G / C
gnomAD v2:
17-33446137-G-C
gnomAD v3:
17-35119118-G-C
gnomAD v4:
17-35119118-G-C
PubMed:
PMID:22986143
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35119118G>C , CM000679.2:g.35119118G>C | GRCh38 |
| NC_000017.10:g.33446137G>C , CM000679.1:g.33446137G>C | GRCh37 |
| NC_000017.9:g.30470250G>C | NCBI36 |
| NG_031858.1:g.5752C>G , LRG_516:g.5752C>G | |
| NG_054719.1:g.2540G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000586186.3:c.137C>G | ENSP00000468273.3:p.Ser46Cys | |
| ENST00000587405.6:c.-95+2173C>G | ENSP00000466478.2:n.-95+2173C>G | |
| ENST00000590016.6:c.137C>G | ENSP00000466399.1:p.Ser46Cys | |
| ENST00000590631.2:n.429C>G | ||
| ENST00000592577.6:c.-221C>G | ENSP00000466839.2:n.-221C>G | |
| ENST00000345365.11:c.137C>G MANE Select | ENSP00000338790.6:p.Ser46Cys | |
| ENST00000335858.11:c.137C>G | ENSP00000338408.6:p.Ser46Cys | |
| ENST00000345365.10:c.137C>G | ENSP00000338790.6:p.Ser46Cys | |
| ENST00000394589.8:c.137C>G | ENSP00000378090.4:p.Ser46Cys | |
| ENST00000415064.6:n.287C>G | ||
| ENST00000460118.6:c.-215C>G | ENSP00000464356.2:n.-215C>G | |
| ENST00000585343.5:c.40C>G | ||
| ENST00000585947.5:n.159+2173C>G | ||
| ENST00000585982.5:n.232C>G | ||
| ENST00000586044.5:c.137C>G | ENSP00000465584.1:p.Ser46Cys | |
| ENST00000586186.2:c.40C>G | ||
| ENST00000586210.5:c.137C>G | ENSP00000465612.1:p.Ser46Cys | |
| ENST00000587405.5:c.-95+2173C>G | ENSP00000466478.1:n.-95+2173C>G | |
| ENST00000587977.5:c.137C>G | ENSP00000466587.1:p.Ser46Cys | |
| ENST00000587982.5:n.191+2173C>G | ||
| ENST00000588372.5:c.-95+2173C>G | ENSP00000468764.1:n.-95+2173C>G | |
| ENST00000588594.5:c.137C>G | ENSP00000465366.1:p.Ser46Cys | |
| ENST00000589506.1:n.348C>G | ||
| ENST00000590016.5:c.137C>G | ENSP00000466399.1:p.Ser46Cys | |
| ENST00000590631.1:c.-59C>G | ENSP00000465033.1:n.-59C>G | |
| ENST00000591723.5:c.-134+2173C>G | ENSP00000467986.1:n.-134+2173C>G | |
| ENST00000592181.1:c.-102C>G | ENSP00000464799.1:n.-102C>G | |
| ENST00000592430.5:n.232+2173C>G | ||
| ENST00000592577.5:c.143C>G | ENSP00000466839.1:p.Ser48Cys | |
| ENST00000592850.5:c.40C>G | ||
| ENST00000592928.2:n.40C>G | ||
| ENST00000593039.5:c.3+2173C>G | ENSP00000466834.1:n.3+2173C>G | |
| NM_001142571.1:c.137C>G | NP_001136043.1:p.Ser46Cys | |
| NM_002878.3:c.137C>G , LRG_516t1:c.137C>G | NP_002869.3:p.Ser46Cys | |
| NM_133629.2:c.137C>G | NP_598332.1:p.Ser46Cys | |
| NR_037711.1:n.393C>G | ||
| NR_037712.1:n.393C>G | ||
| NR_037714.1:n.232+2173C>G | ||
| NM_001142571.2:c.137C>G | NP_001136043.1:p.Ser46Cys | |
| NM_133629.3:c.137C>G | NP_598332.1:p.Ser46Cys | |
| NR_037711.2:n.282C>G | ||
| NR_037712.2:n.282C>G | ||
| NM_002878.4:c.137C>G MANE Select | NP_002869.3:p.Ser46Cys |