Linked Data
ClinVar Variation Id:
161339
dbSNP Id:
rs371071104
ExAC:
2:128183705 C / T
gnomAD v2:
2-128183705-C-T
gnomAD v3:
2-127426129-C-T
gnomAD v4:
2-127426129-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127426129C>T , CM000664.2:g.127426129C>T | GRCh38 |
| NC_000002.11:g.128183705C>T , CM000664.1:g.128183705C>T | GRCh37 |
| NC_000002.10:g.127900175C>T | NCBI36 |
| NG_016323.1:g.12710C>T , LRG_599:g.12710C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.580C>T MANE Select | ENSP00000234071.4:p.Arg194Cys | |
| ENST00000234071.7:c.580C>T | ENSP00000234071.3:p.Arg194Cys | |
| ENST00000402125.2:c.121-2228C>T | ||
| ENST00000409048.1:c.682C>T | ENSP00000386679.1:p.Arg228Cys | |
| ENST00000442644.5:c.523C>T | ENSP00000411241.1:p.Arg175Cys | |
| ENST00000464089.1:n.166C>T | ||
| NM_000312.3:c.580C>T , LRG_599t1:c.580C>T | NP_000303.1:p.Arg194Cys | |
| XM_005263715.3:c.763C>T | XP_005263772.1:p.Arg255Cys | |
| XM_005263716.3:c.745C>T | XP_005263773.1:p.Arg249Cys | |
| XM_005263717.3:c.643C>T | XP_005263774.1:p.Arg215Cys | |
| XM_005263717.4:c.643C>T | XP_005263774.1:p.Arg215Cys | |
| XM_017004505.1:c.823C>T | XP_016859994.1:p.Arg275Cys | |
| XM_024453002.1:c.925C>T | XP_024308770.1:p.Arg309Cys | |
| XM_024453003.1:c.865C>T | XP_024308771.1:p.Arg289Cys | |
| XM_024453004.1:c.763C>T | XP_024308772.1:p.Arg255Cys | |
| XM_024453005.1:c.745C>T | XP_024308773.1:p.Arg249Cys | |
| XM_024453006.1:c.682C>T | XP_024308774.1:p.Arg228Cys | |
| XR_923313.2:n.4456G>A | ||
| NM_000312.4:c.580C>T MANE Select | NP_000303.1:p.Arg194Cys | |
| NM_001375602.1:c.763C>T | NP_001362531.1:p.Arg255Cys | |
| NM_001375603.1:c.745C>T | NP_001362532.1:p.Arg249Cys | |
| NM_001375604.1:c.643C>T | NP_001362533.1:p.Arg215Cys | |
| NM_001375605.1:c.682C>T | NP_001362534.1:p.Arg228Cys | |
| NM_001375606.1:c.748C>T | NP_001362535.1:p.Arg250Cys | |
| NM_001375607.1:c.766C>T | NP_001362536.1:p.Arg256Cys | |
| NM_001375608.1:c.523C>T | NP_001362537.1:p.Arg175Cys | |
| NM_001375609.1:c.556C>T | NP_001362538.1:p.Arg186Cys | |
| NM_001375610.1:c.574C>T | NP_001362539.1:p.Arg192Cys | |
| NM_001375611.1:c.580C>T | NP_001362540.1:p.Arg194Cys | |
| NM_001375613.1:c.580C>T | NP_001362542.1:p.Arg194Cys |