Linked Data
ClinVar Variation Id:
1339289
dbSNP Id:
rs1196125127
gnomAD v2:
2-220283212-C-T
gnomAD v3:
2-219418490-C-T
gnomAD v4:
2-219418490-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219418490C>T , CM000664.2:g.219418490C>T | GRCh38 |
| NC_000002.11:g.220283212C>T , CM000664.1:g.220283212C>T | GRCh37 |
| NC_000002.10:g.219991456C>T | NCBI36 |
| NG_008043.1:g.5114C>T , LRG_380:g.5114C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373960.4:c.28C>T MANE Select | ENSP00000363071.3:p.Arg10Cys | |
| ENST00000373960.3:c.28C>T | ENSP00000363071.3:p.Arg10Cys | |
| NM_001927.3:c.28C>T , LRG_380t1:c.28C>T | NP_001918.3:p.Arg10Cys | |
| NM_001927.4:c.28C>T MANE Select | NP_001918.3:p.Arg10Cys | |
| NM_001382708.1:c.28C>T | NP_001369637.1:p.Arg10Cys | |
| NM_001382709.1:c.28C>T | NP_001369638.1:p.Arg10Cys | |
| NM_001382710.1:c.28C>T | NP_001369639.1:p.Arg10Cys | |
| NM_001382711.1:c.28C>T | NP_001369640.1:p.Arg10Cys | |
| NM_001382712.1:c.28C>T | NP_001369641.1:p.Arg10Cys | |
| NM_001382713.1:c.28C>T | NP_001369642.1:p.Arg10Cys |