Linked Data
ClinVar Variation Id:
1505277
ClinVar RCV Id:
RCV003773366
dbSNP Id:
rs578093992
gnomAD v2:
9-271629-A-G
gnomAD v3:
9-271629-A-G
gnomAD v4:
9-271629-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.271629A>G , CM000671.2:g.271629A>G | GRCh38 |
| NC_000009.11:g.271629A>G , CM000671.1:g.271629A>G | GRCh37 |
| NC_000009.10:g.261629A>G | NCBI36 |
| NG_017007.1:g.61765A>G , LRG_196:g.61765A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382329.2:c.-149A>G | ENSP00000371766.2:n.-149A>G | |
| ENST00000682121.1:n.166-14832A>G | ||
| ENST00000684166.1:n.165A>G | ||
| ENST00000684384.1:n.165A>G | ||
| ENST00000432829.7:c.56A>G MANE Select | ENSP00000394888.3:p.Tyr19Cys | |
| ENST00000432829.6:c.56A>G | ENSP00000394888.3:p.Tyr19Cys | |
| ENST00000454469.6:n.165A>G | ||
| ENST00000469197.5:c.56A>G | ENSP00000418587.1:p.Tyr19Cys | |
| ENST00000479404.5:c.-149A>G | ENSP00000417082.1:n.-149A>G | |
| ENST00000524396.5:c.*19A>G | ENSP00000436628.1:n.*19A>G | |
| NM_203447.3:c.56A>G , LRG_196t1:c.56A>G | NP_982272.2:p.Tyr19Cys | |
| XM_011518045.1:c.-149A>G | XP_011516347.1:n.-149A>G | |
| XM_011518047.1:c.-149A>G | XP_011516349.1:n.-149A>G | |
| XR_929404.1:n.88+1276T>C | ||
| XR_929406.1:n.1333+2655T>C | ||
| XM_011518045.3:c.-149A>G | XP_011516347.1:n.-149A>G | |
| XM_011518047.3:c.-149A>G | XP_011516349.1:n.-149A>G | |
| XM_017015173.1:c.-149A>G | XP_016870662.1:n.-149A>G | |
| NM_203447.4:c.56A>G MANE Select | NP_982272.2:p.Tyr19Cys |