Linked Data
ClinVar Variation Id:
1346653
ClinVar RCV Id:
RCV002030124
dbSNP Id:
rs1365595687
gnomAD v2:
5-149274820-C-A
gnomAD v3:
5-149895257-C-A
gnomAD v4:
5-149895257-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149895257C>A , CM000667.2:g.149895257C>A | GRCh38 |
| NC_000005.9:g.149274820C>A , CM000667.1:g.149274820C>A | GRCh37 |
| NC_000005.8:g.149255013C>A | NCBI36 |
| NG_009102.1:g.54537G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.1654G>T MANE Select | ENSP00000255266.5:p.Gly552Cys | |
| ENST00000255266.9:c.1654G>T | ENSP00000255266.5:p.Gly552Cys | |
| ENST00000508173.5:n.1838G>T | ||
| ENST00000613228.1:c.1411G>T | ENSP00000478060.1:p.Gly471Cys | |
| ENST00000617647.4:c.1411G>T | ENSP00000482774.1:p.Gly471Cys | |
| NM_000440.2:c.1654G>T | NP_000431.2:p.Gly552Cys | |
| XM_011537648.1:c.1654G>T | XP_011535950.1:p.Gly552Cys | |
| XM_011537649.1:c.1108G>T | XP_011535951.1:p.Gly370Cys | |
| XM_011537650.1:c.769G>T | XP_011535952.1:p.Gly257Cys | |
| XM_011537651.1:c.607G>T | XP_011535953.1:p.Gly203Cys | |
| XM_011537652.1:c.577G>T | XP_011535954.1:p.Gly193Cys | |
| XM_011537653.1:c.577G>T | XP_011535955.1:p.Gly193Cys | |
| XM_011537654.1:c.577G>T | XP_011535956.1:p.Gly193Cys | |
| XM_011537650.2:c.769G>T | XP_011535952.1:p.Gly257Cys | |
| XM_011537651.2:c.607G>T | XP_011535953.1:p.Gly203Cys | |
| XM_011537653.2:c.577G>T | XP_011535955.1:p.Gly193Cys | |
| XM_011537654.2:c.577G>T | XP_011535956.1:p.Gly193Cys | |
| XM_017009572.2:c.1411G>T | XP_016865061.1:p.Gly471Cys | |
| NM_000440.3:c.1654G>T MANE Select | NP_000431.2:p.Gly552Cys |