Linked Data
ClinVar Variation Id:
777653
ClinVar RCV Id:
RCV000958160
dbSNP Id:
rs4938016
ExAC:
11:113270015 G / T
gnomAD v2:
11-113270015-G-T
gnomAD v3:
11-113399293-G-T
gnomAD v4:
11-113399293-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113399293G>T , CM000673.2:g.113399293G>T | GRCh38 |
| NC_000011.9:g.113270015G>T , CM000673.1:g.113270015G>T | GRCh37 |
| NC_000011.8:g.112775225G>T | NCBI36 |
| NG_012976.1:g.16503G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303941.4:c.1324G>T MANE Select | ENSP00000306678.3:p.Gly442Cys | |
| ENST00000303941.3:c.1324G>T | ENSP00000306678.3:p.Gly442Cys | |
| NM_178510.1:c.1324G>T | NP_848605.1:p.Gly442Cys | |
| XM_011542736.1:c.1357G>T | XP_011541038.1:p.Gly453Cys | |
| XM_011542737.1:c.1327G>T | XP_011541039.1:p.Gly443Cys | |
| XM_011542738.1:c.1135G>T | XP_011541040.1:p.Gly379Cys | |
| XM_011542736.2:c.1357G>T | XP_011541038.1:p.Gly453Cys | |
| XM_011542737.2:c.1327G>T | XP_011541039.1:p.Gly443Cys | |
| XM_011542738.2:c.1135G>T | XP_011541040.1:p.Gly379Cys | |
| XM_017017475.1:c.1354G>T | XP_016872964.1:p.Gly452Cys | |
| NM_178510.2:c.1324G>T MANE Select | NP_848605.1:p.Gly442Cys |