Linked Data
ClinVar Variation Id:
542162
dbSNP Id:
rs11548640
ExAC:
5:179250928 C / T
gnomAD v2:
5-179250928-C-T
gnomAD v3:
5-179823928-C-T
gnomAD v4:
5-179823928-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179823928C>T , CM000667.2:g.179823928C>T | GRCh38 |
| NC_000005.9:g.179250928C>T , CM000667.1:g.179250928C>T | GRCh37 |
| NC_000005.8:g.179183534C>T | NCBI36 |
| NG_011342.1:g.22541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389805.9:c.372C>T MANE Select | ENSP00000374455.4:p.Pro124= | |
| ENST00000360718.5:c.120C>T | ENSP00000353944.5:p.Pro40= | |
| ENST00000389805.8:c.372C>T | ENSP00000374455.4:p.Pro124= | |
| ENST00000422245.5:c.120C>T | ENSP00000394534.1:p.Pro40= | |
| ENST00000453046.5:c.*307C>T | ENSP00000405061.1:n.*307C>T | |
| ENST00000464493.5:n.267C>T | ||
| ENST00000466342.1:n.71C>T | ||
| ENST00000481335.5:n.522C>T | ||
| ENST00000485412.1:n.364C>T | ||
| ENST00000504627.1:c.441C>T | ENSP00000425957.1:p.Pro147= | |
| ENST00000508284.5:c.*94C>T | ENSP00000424195.1:n.*94C>T | |
| ENST00000510187.5:c.372C>T | ENSP00000424477.1:p.Pro124= | |
| ENST00000514093.5:c.120C>T | ENSP00000427308.1:p.Pro40= | |
| NM_001142298.1:c.120C>T | NP_001135770.1:p.Pro40= | |
| NM_001142299.1:c.120C>T | NP_001135771.1:p.Pro40= | |
| NM_003900.4:c.372C>T | NP_003891.1:p.Pro124= | |
| XM_017010010.1:c.120C>T | XP_016865499.1:p.Pro40= | |
| NM_003900.5:c.372C>T MANE Select | NP_003891.1:p.Pro124= | |
| NM_001142298.2:c.120C>T | NP_001135770.1:p.Pro40= | |
| NM_001142299.2:c.120C>T | NP_001135771.1:p.Pro40= |