Linked Data
ClinVar Variation Id:
240715
ClinVar RCV Id:
RCV000234605
dbSNP Id:
rs41265137
ExAC:
2:165947079 C / A
gnomAD v2:
2-165947079-C-A
gnomAD v3:
2-165090569-C-A
gnomAD v4:
2-165090569-C-A
ERepo:
CA1938381/MONDO:0100062/069
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165090569C>A , CM000664.2:g.165090569C>A | GRCh38 |
| NC_000002.11:g.165947079C>A , CM000664.1:g.165947079C>A | GRCh37 |
| NC_000002.10:g.165655325C>A | NCBI36 |
| NG_042289.1:g.118520G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706067.1:c.5533G>T | ENSP00000516211.1:p.Gly1845Cys | |
| ENST00000283254.12:c.5584G>T MANE Select | ENSP00000283254.7:p.Gly1862Cys | |
| ENST00000638473.1:c.*3425G>T | ENSP00000491552.1:n.*3425G>T | |
| ENST00000639244.1:c.5521G>T | ENSP00000492251.1:p.Gly1841Cys | |
| ENST00000640652.1:c.*2318G>T | ENSP00000492807.1:n.*2318G>T | |
| ENST00000658209.1:c.3793G>T | ENSP00000499598.1:n.3793G>T | |
| ENST00000283254.11:c.5584G>T | ENSP00000283254.7:p.Gly1862Cys | |
| ENST00000360093.7:c.5584G>T | ENSP00000353206.3:p.Gly1862Cys | |
| ENST00000409101.7:c.5437G>T | ENSP00000386726.3:p.Gly1813Cys | |
| NM_001081676.1:c.5437G>T | NP_001075145.1:p.Gly1813Cys | |
| NM_001081677.1:c.5437G>T | NP_001075146.1:p.Gly1813Cys | |
| NM_006922.3:c.5584G>T | NP_008853.3:p.Gly1862Cys | |
| XM_006712679.1:c.5584G>T | XP_006712742.1:p.Gly1862Cys | |
| XM_011511610.1:c.5584G>T | XP_011509912.1:p.Gly1862Cys | |
| XM_011511611.1:c.5584G>T | XP_011509913.1:p.Gly1862Cys | |
| XM_011511612.1:c.5533G>T | XP_011509914.1:p.Gly1845Cys | |
| XM_011511613.1:c.3694G>T | XP_011509915.1:p.Gly1232Cys | |
| XM_011511610.3:c.5584G>T | XP_011509912.1:p.Gly1862Cys | |
| XM_011511613.3:c.3694G>T | XP_011509915.1:p.Gly1232Cys | |
| XM_017004660.2:c.5584G>T | XP_016860149.1:p.Gly1862Cys | |
| XM_017004661.2:c.5533G>T | XP_016860150.1:p.Gly1845Cys | |
| XM_017004662.2:c.5446G>T | XP_016860151.1:p.Gly1816Cys | |
| XM_017004663.2:c.3694G>T | XP_016860152.1:p.Gly1232Cys | |
| NM_006922.4:c.5584G>T MANE Select | NP_008853.3:p.Gly1862Cys | |
| NM_001081676.2:c.5437G>T | NP_001075145.1:p.Gly1813Cys | |
| NM_001081677.2:c.5437G>T | NP_001075146.1:p.Gly1813Cys |