Linked Data
ClinVar Variation Id:
3176796
ClinVar RCV Id:
RCV004474656
dbSNP Id:
rs142667771
ExAC:
8:56699538 G / T
gnomAD v2:
8-56699538-G-T
gnomAD v3:
8-55786979-G-T
gnomAD v4:
8-55786979-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.55786979G>T , CM000670.2:g.55786979G>T | GRCh38 |
| NC_000008.10:g.56699538G>T , CM000670.1:g.56699538G>T | GRCh37 |
| NC_000008.9:g.56862092G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260129.6:c.1081G>T MANE Select | ENSP00000260129.5:p.Gly361Cys | |
| ENST00000260129.5:c.1081G>T | ENSP00000260129.5:p.Gly361Cys | |
| ENST00000523948.5:c.*854G>T | ENSP00000430467.1:n.*854G>T | |
| NM_024831.6:c.1081G>T | NP_079107.6:p.Gly361Cys | |
| XM_005251328.1:c.802G>T | XP_005251385.1:p.Gly268Cys | |
| XM_006716485.1:c.1081G>T | XP_006716548.1:p.Gly361Cys | |
| XM_006716486.2:c.802G>T | XP_006716549.1:p.Gly268Cys | |
| NM_001317902.1:c.802G>T | NP_001304831.1:p.Gly268Cys | |
| NM_001363184.1:c.802G>T | NP_001350113.1:p.Gly268Cys | |
| NM_024831.7:c.1081G>T | NP_079107.6:p.Gly361Cys | |
| XM_006716485.2:c.1081G>T | XP_006716548.1:p.Gly361Cys | |
| XM_017014004.1:c.1081G>T | XP_016869493.1:p.Gly361Cys | |
| NM_001317902.2:c.802G>T | NP_001304831.1:p.Gly268Cys | |
| NM_001363184.2:c.802G>T | NP_001350113.1:p.Gly268Cys | |
| NM_024831.8:c.1081G>T MANE Select | NP_079107.6:p.Gly361Cys |