Linked Data
ClinVar Variation Id:
1050956
ClinVar RCV Id:
RCV001358929
dbSNP Id:
rs201926841
ExAC:
5:147486645 A / G
gnomAD v2:
5-147486645-A-G
gnomAD v3:
5-148107082-A-G
gnomAD v4:
5-148107082-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148107082A>G , CM000667.2:g.148107082A>G | GRCh38 |
| NC_000005.9:g.147486645A>G , CM000667.1:g.147486645A>G | GRCh37 |
| NC_000005.8:g.147466838A>G | NCBI36 |
| NG_009633.1:g.48111A>G , LRG_110:g.48111A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481286.6:n.1134A>G | ||
| ENST00000256084.8:c.1525A>G MANE Select | ENSP00000256084.7:p.Ile509Val | |
| ENST00000256084.7:c.1525A>G | ENSP00000256084.7:p.Ile509Val | |
| ENST00000359874.7:c.1525A>G | ENSP00000352936.3:p.Ile509Val | |
| ENST00000398454.5:c.1525A>G | ENSP00000381472.1:p.Ile509Val | |
| ENST00000507988.5:n.1689A>G | ||
| ENST00000508733.5:c.1468A>G | ENSP00000421519.1:p.Ile490Val | |
| NM_001127698.1:c.1525A>G | NP_001121170.1:p.Ile509Val | |
| NM_001127699.1:c.1525A>G | NP_001121171.1:p.Ile509Val | |
| NM_006846.3:c.1525A>G , LRG_110t1:c.1525A>G | NP_006837.2:p.Ile509Val | |
| XM_011537550.1:c.1468A>G | XP_011535852.1:p.Ile490Val | |
| XM_011537551.1:c.1441A>G | XP_011535853.1:p.Ile481Val | |
| XM_011537551.2:c.1441A>G | XP_011535853.1:p.Ile481Val | |
| NM_001127698.2:c.1525A>G | NP_001121170.1:p.Ile509Val | |
| NM_001127699.2:c.1525A>G | NP_001121171.1:p.Ile509Val | |
| NM_006846.4:c.1525A>G MANE Select | NP_006837.2:p.Ile509Val |