Linked Data
ClinVar Variation Id:
1676215
ClinVar RCV Id:
RCV002221178
dbSNP Id:
rs748920874
ExAC:
2:128183672 T / C
gnomAD v2:
2-128183672-T-C
gnomAD v4:
2-127426096-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127426096T>C , CM000664.2:g.127426096T>C | GRCh38 |
| NC_000002.11:g.128183672T>C , CM000664.1:g.128183672T>C | GRCh37 |
| NC_000002.10:g.127900142T>C | NCBI36 |
| NG_016323.1:g.12677T>C , LRG_599:g.12677T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.547T>C MANE Select | ENSP00000234071.4:p.Cys183Arg | |
| ENST00000234071.7:c.547T>C | ENSP00000234071.3:p.Cys183Arg | |
| ENST00000402125.2:c.121-2261T>C | ||
| ENST00000409048.1:c.649T>C | ENSP00000386679.1:p.Cys217Arg | |
| ENST00000442644.5:c.490T>C | ENSP00000411241.1:p.Cys164Arg | |
| ENST00000464089.1:n.133T>C | ||
| NM_000312.3:c.547T>C , LRG_599t1:c.547T>C | NP_000303.1:p.Cys183Arg | |
| XM_005263715.3:c.730T>C | XP_005263772.1:p.Cys244Arg | |
| XM_005263716.3:c.712T>C | XP_005263773.1:p.Cys238Arg | |
| XM_005263717.3:c.610T>C | XP_005263774.1:p.Cys204Arg | |
| XM_005263717.4:c.610T>C | XP_005263774.1:p.Cys204Arg | |
| XM_017004505.1:c.790T>C | XP_016859994.1:p.Cys264Arg | |
| XM_024453002.1:c.892T>C | XP_024308770.1:p.Cys298Arg | |
| XM_024453003.1:c.832T>C | XP_024308771.1:p.Cys278Arg | |
| XM_024453004.1:c.730T>C | XP_024308772.1:p.Cys244Arg | |
| XM_024453005.1:c.712T>C | XP_024308773.1:p.Cys238Arg | |
| XM_024453006.1:c.649T>C | XP_024308774.1:p.Cys217Arg | |
| XR_923313.2:n.4489A>G | ||
| NM_000312.4:c.547T>C MANE Select | NP_000303.1:p.Cys183Arg | |
| NM_001375602.1:c.730T>C | NP_001362531.1:p.Cys244Arg | |
| NM_001375603.1:c.712T>C | NP_001362532.1:p.Cys238Arg | |
| NM_001375604.1:c.610T>C | NP_001362533.1:p.Cys204Arg | |
| NM_001375605.1:c.649T>C | NP_001362534.1:p.Cys217Arg | |
| NM_001375606.1:c.715T>C | NP_001362535.1:p.Cys239Arg | |
| NM_001375607.1:c.733T>C | NP_001362536.1:p.Cys245Arg | |
| NM_001375608.1:c.490T>C | NP_001362537.1:p.Cys164Arg | |
| NM_001375609.1:c.523T>C | NP_001362538.1:p.Cys175Arg | |
| NM_001375610.1:c.541T>C | NP_001362539.1:p.Cys181Arg | |
| NM_001375611.1:c.547T>C | NP_001362540.1:p.Cys183Arg | |
| NM_001375613.1:c.547T>C | NP_001362542.1:p.Cys183Arg |