Linked Data
dbSNP Id:
rs2030001282
gnomAD v4:
17-63487057-C-T
MyVariant Identifiers:
chr17:g.61564418C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63487057C>T , CM000679.2:g.63487057C>T | GRCh38 |
| NC_000017.10:g.61564418C>T , CM000679.1:g.61564418C>T | GRCh37 |
| NC_000017.9:g.58918150C>T | NCBI36 |
| NG_011648.1:g.14985C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2289C>T MANE Select | ENSP00000290866.4:p.Cys763= | |
| ENST00000290863.10:c.567C>T | ENSP00000290863.6:p.Cys189= | |
| ENST00000290866.9:c.2289C>T | ENSP00000290866.4:p.Cys763= | |
| ENST00000413513.7:c.567C>T | ENSP00000392247.3:p.Cys189= | |
| ENST00000428043.5:c.2289C>T | ENSP00000397593.2:p.Cys763= | |
| ENST00000577647.2:c.567C>T | ENSP00000464149.1:p.Cys189= | |
| ENST00000578839.5:c.*359C>T | ENSP00000462110.2:n.*359C>T | |
| ENST00000579204.1:c.470C>T | ENSP00000464629.1:n.470C>T | |
| ENST00000579314.5:c.567C>T | ENSP00000462599.1:p.Cys189= | |
| ENST00000579726.5:c.851C>T | ||
| ENST00000582005.5:c.*209C>T | ENSP00000462002.1:n.*209C>T | |
| ENST00000582761.1:c.57C>T | ENSP00000462909.1:p.Cys19= | |
| ENST00000584865.5:n.235C>T | ||
| NM_000789.3:c.2289C>T | NP_000780.1:p.Cys763= | |
| NM_001178057.1:c.567C>T | NP_001171528.1:p.Cys189= | |
| NM_152830.2:c.567C>T | NP_690043.1:p.Cys189= | |
| XM_005257110.1:c.1740C>T | XP_005257167.1:p.Cys580= | |
| XM_006721737.2:c.627C>T | XP_006721800.2:p.Cys209= | |
| XM_006721737.3:c.627C>T | XP_006721800.2:p.Cys209= | |
| NM_000789.4:c.2289C>T MANE Select | NP_000780.1:p.Cys763= | |
| NM_001178057.2:c.567C>T | NP_001171528.1:p.Cys189= | |
| NM_152830.3:c.567C>T | NP_690043.1:p.Cys189= | |
| NM_001382700.1:c.1722C>T | NP_001369629.1:p.Cys574= | |
| NM_001382701.1:c.1437C>T | NP_001369630.1:p.Cys479= | |
| NM_001382702.1:c.219C>T | NP_001369631.1:p.Cys73= | |
| NR_168483.1:n.589C>T |