Linked Data
ClinVar Variation Id:
2495814
ClinVar RCV Id:
RCV004283333
dbSNP Id:
rs771772719
ExAC:
11:72423577 G / A
gnomAD v2:
11-72423577-G-A
gnomAD v4:
11-72712532-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72712532G>A , CM000673.2:g.72712532G>A | GRCh38 |
| NC_000011.9:g.72423577G>A , CM000673.1:g.72423577G>A | GRCh37 |
| NC_000011.8:g.72101225G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393609.8:c.784C>T MANE Select | ENSP00000377233.3:p.Arg262Cys | |
| ENST00000334211.12:c.49C>T | ENSP00000335506.8:p.Arg17Cys | |
| ENST00000359373.9:c.784C>T | ENSP00000352332.5:p.Arg262Cys | |
| ENST00000393605.7:c.64C>T | ENSP00000377230.3:p.Arg22Cys | |
| ENST00000393609.7:c.784C>T | ENSP00000377233.3:p.Arg262Cys | |
| ENST00000426523.5:c.49C>T | ENSP00000392264.1:p.Arg17Cys | |
| ENST00000429686.5:c.49C>T | ENSP00000403127.1:p.Arg17Cys | |
| ENST00000465814.5:n.1121C>T | ||
| NM_001040118.2:c.784C>T | NP_001035207.1:p.Arg262Cys | |
| NM_001135190.1:c.49C>T | NP_001128662.1:p.Arg17Cys | |
| NM_015242.4:c.49C>T | NP_056057.2:p.Arg17Cys | |
| NM_001369489.1:c.49C>T | NP_001356418.1:p.Arg17Cys | |
| NR_161388.1:n.766C>T | ||
| NM_001040118.3:c.784C>T MANE Select | NP_001035207.1:p.Arg262Cys | |
| NM_001135190.2:c.49C>T | NP_001128662.1:p.Arg17Cys | |
| NM_015242.5:c.49C>T | NP_056057.2:p.Arg17Cys |