Linked Data
dbSNP Id:
rs751104498
ExAC:
1:98015133 T / C
gnomAD v2:
1-98015133-T-C
gnomAD v4:
1-97549577-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97549577T>C , CM000663.2:g.97549577T>C | GRCh38 |
| NC_000001.10:g.98015133T>C , CM000663.1:g.98015133T>C | GRCh37 |
| NC_000001.9:g.97787721T>C | NCBI36 |
| NG_008807.2:g.376483A>G , LRG_722:g.376483A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1507A>G MANE Select | ENSP00000359211.3:p.Ile503Val | |
| ENST00000370192.7:c.1507A>G | ENSP00000359211.3:p.Ile503Val | |
| NM_000110.3:c.1507A>G , LRG_722t1:c.1507A>G | NP_000101.2:p.Ile503Val | |
| XM_005270562.3:c.1507A>G | XP_005270619.2:p.Ile503Val | |
| XM_006710397.2:c.1507A>G | XP_006710460.1:p.Ile503Val | |
| XM_006710397.3:c.1507A>G | XP_006710460.1:p.Ile503Val | |
| XM_017000507.1:c.1396A>G | XP_016855996.1:p.Ile466Val | |
| XM_017000508.2:c.1012A>G | XP_016855997.1:p.Ile338Val | |
| XM_017000509.2:c.1012A>G | XP_016855998.1:p.Ile338Val | |
| XM_017000510.1:c.1012A>G | XP_016855999.1:p.Ile338Val | |
| NM_000110.4:c.1507A>G MANE Select | NP_000101.2:p.Ile503Val |