Linked Data
ClinVar Variation Id:
362036
dbSNP Id:
rs377225752
ExAC:
8:134262718 G / A
gnomAD v2:
8-134262718-G-A
gnomAD v3:
8-133250475-G-A
gnomAD v4:
8-133250475-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133250475G>A , CM000670.2:g.133250475G>A | GRCh38 |
| NC_000008.10:g.134262718G>A , CM000670.1:g.134262718G>A | GRCh37 |
| NC_000008.9:g.134331900G>A | NCBI36 |
| NG_007943.1:g.51781C>T , LRG_258:g.51781C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323851.13:c.663C>T MANE Select | ENSP00000319977.8:p.Pro221= | |
| ENST00000537882.3:c.663C>T | ENSP00000437443.2:p.Pro221= | |
| ENST00000675172.1:c.259C>T | ENSP00000502297.1:n.259C>T | |
| ENST00000675273.1:n.58-1704C>T | ||
| ENST00000675860.1:n.428C>T | ||
| ENST00000676142.1:n.69C>T | ||
| ENST00000676444.1:n.694C>T | ||
| ENST00000323851.11:c.663C>T | ENSP00000319977.7:p.Pro221= | |
| ENST00000414097.6:c.663C>T | ENSP00000404854.2:p.Pro221= | |
| ENST00000517331.5:n.381C>T | ||
| ENST00000517599.5:c.*269C>T | ENSP00000429172.1:n.*269C>T | |
| ENST00000518066.5:c.37-8419C>T | ENSP00000431057.1:n.37-8419C>T | |
| ENST00000518176.5:c.49-3812C>T | ENSP00000429007.1:n.49-3812C>T | |
| ENST00000519278.5:n.1759C>T | ||
| ENST00000521664.1:n.413C>T | ||
| ENST00000522377.5:c.*143C>T | ENSP00000429380.1:n.*143C>T | |
| ENST00000522476.5:c.465C>T | ENSP00000427894.1:p.Pro155= | |
| ENST00000537882.2:c.420C>T | ENSP00000437443.1:p.Pro140= | |
| NM_001135242.1:c.663C>T | NP_001128714.1:p.Pro221= | |
| NM_001258432.1:c.465C>T | NP_001245361.1:p.Pro155= | |
| NM_001258433.1:c.420C>T | NP_001245362.1:p.Pro140= | |
| NM_006096.3:c.663C>T , LRG_258t1:c.663C>T | NP_006087.2:p.Pro221= | |
| XM_011516791.1:c.714C>T | XP_011515093.1:p.Pro238= | |
| XM_011516792.1:c.96C>T | XP_011515094.1:p.Pro32= | |
| XM_011516792.2:c.96C>T | XP_011515094.1:p.Pro32= | |
| NM_001135242.2:c.663C>T | NP_001128714.1:p.Pro221= | |
| NM_001258432.2:c.465C>T | NP_001245361.1:p.Pro155= | |
| NM_001258433.2:c.420C>T | NP_001245362.1:p.Pro140= | |
| NM_001374844.1:c.714C>T | NP_001361773.1:p.Pro238= | |
| NM_001374845.1:c.663C>T | NP_001361774.1:p.Pro221= | |
| NM_001374846.1:c.663C>T | NP_001361775.1:p.Pro221= | |
| NM_001374847.1:c.465C>T | NP_001361776.1:p.Pro155= | |
| NM_006096.4:c.663C>T MANE Select | NP_006087.2:p.Pro221= |