Linked Data
ClinVar Variation Id:
1953
dbSNP Id:
rs121917828
ExAC:
11:67223662 C / T
gnomAD v2:
11-67223662-C-T
gnomAD v3:
11-67456191-C-T
gnomAD v4:
11-67456191-C-T
PubMed:
PMID:16960802
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67456191C>T , CM000673.2:g.67456191C>T | GRCh38 |
| NC_000011.9:g.67223662C>T , CM000673.1:g.67223662C>T | GRCh37 |
| NC_000011.8:g.66980238C>T | NCBI36 |
| NG_021211.1:g.5845C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325656.7:c.370C>T MANE Select | ENSP00000324960.5:p.Arg124Cys | |
| ENST00000325656.6:c.370C>T | ENSP00000324960.5:p.Arg124Cys | |
| ENST00000438189.6:c.55C>T | ENSP00000401555.2:p.Arg19Cys | |
| ENST00000545777.1:c.*51C>T | ENSP00000439145.1:n.*51C>T | |
| NM_001300895.1:c.55C>T | NP_001287824.1:p.Arg19Cys | |
| NM_001300896.1:c.55C>T | NP_001287825.1:p.Arg19Cys | |
| NM_145200.3:c.370C>T | NP_660201.1:p.Arg124Cys | |
| XM_005274114.2:c.430C>T | XP_005274171.2:p.Arg144Cys | |
| XM_011545181.1:c.430C>T | XP_011543483.1:p.Arg144Cys | |
| XM_011545182.1:c.430C>T | XP_011543484.1:p.Arg144Cys | |
| XM_011545183.1:c.55C>T | XP_011543485.1:p.Arg19Cys | |
| XM_011545184.1:c.55C>T | XP_011543486.1:p.Arg19Cys | |
| XM_005274114.3:c.430C>T | XP_005274171.2:p.Arg144Cys | |
| XM_011545181.2:c.430C>T | XP_011543483.1:p.Arg144Cys | |
| XM_011545182.2:c.430C>T | XP_011543484.1:p.Arg144Cys | |
| XM_011545183.2:c.55C>T | XP_011543485.1:p.Arg19Cys | |
| XM_017018025.1:c.55C>T | XP_016873514.1:p.Arg19Cys | |
| XM_024448615.1:c.370C>T | XP_024304383.1:p.Arg124Cys | |
| XM_024448616.1:c.55C>T | XP_024304384.1:p.Arg19Cys | |
| NM_001300895.2:c.55C>T | NP_001287824.1:p.Arg19Cys | |
| NM_001300896.2:c.55C>T | NP_001287825.1:p.Arg19Cys | |
| NM_145200.4:c.370C>T | NP_660201.1:p.Arg124Cys | |
| NM_001300895.3:c.55C>T | NP_001287824.1:p.Arg19Cys | |
| NM_001300896.3:c.55C>T | NP_001287825.1:p.Arg19Cys | |
| NM_001379183.1:c.55C>T | NP_001366112.1:p.Arg19Cys | |
| NM_145200.5:c.370C>T MANE Select | NP_660201.1:p.Arg124Cys | |
| NR_166529.1:n.436+402C>T |