Linked Data
ClinVar Variation Id:
2375023
ClinVar RCV Id:
RCV004213141
dbSNP Id:
rs754003655
ExAC:
17:56643165 C / A
gnomAD v2:
17-56643165-C-A
gnomAD v3:
17-58565804-C-A
gnomAD v4:
17-58565804-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58565804C>A , CM000679.2:g.58565804C>A | GRCh38 |
| NC_000017.10:g.56643165C>A , CM000679.1:g.56643165C>A | GRCh37 |
| NC_000017.9:g.53998164C>A | NCBI36 |
| NG_047169.1:g.131276G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349033.10:c.3907G>T MANE Select | ENSP00000268910.8:p.Gly1303Cys | |
| ENST00000240361.12:c.4045G>T | ENSP00000240361.8:p.Gly1349Cys | |
| ENST00000349033.9:c.3907G>T | ENSP00000268910.8:p.Gly1303Cys | |
| ENST00000389934.7:c.4027G>T | ENSP00000374584.3:p.Gly1343Cys | |
| ENST00000581147.1:c.624G>T | ||
| ENST00000582740.1:c.*3745G>T | ENSP00000463593.1:n.*3745G>T | |
| NM_001201457.1:c.4045G>T | NP_001188386.1:p.Gly1349Cys | |
| NM_031272.4:c.3907G>T | NP_112562.3:p.Gly1303Cys | |
| NM_198393.3:c.4027G>T | NP_938207.2:p.Gly1343Cys | |
| XM_011525028.1:c.4150G>T | XP_011523330.1:p.Gly1384Cys | |
| XM_011525029.1:c.4150G>T | XP_011523331.1:p.Gly1384Cys | |
| XM_011525030.1:c.4147G>T | XP_011523332.1:p.Gly1383Cys | |
| XM_011525031.1:c.4081G>T | XP_011523333.1:p.Gly1361Cys | |
| XM_011525032.1:c.3913G>T | XP_011523334.1:p.Gly1305Cys | |
| XM_011525033.1:c.2851G>T | XP_011523335.1:p.Gly951Cys | |
| XM_011525029.3:c.4150G>T | XP_011523331.1:p.Gly1384Cys | |
| XM_017024861.1:c.2851G>T | XP_016880350.1:p.Gly951Cys | |
| NM_001201457.2:c.4045G>T | NP_001188386.1:p.Gly1349Cys | |
| NM_031272.5:c.3907G>T MANE Select | NP_112562.3:p.Gly1303Cys | |
| NM_198393.4:c.4027G>T | NP_938207.2:p.Gly1343Cys |