Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153690488A>G , CM000685.2:g.153690488A>G | GRCh38 |
| NC_000023.10:g.152955943A>G , CM000685.1:g.152955943A>G | GRCh37 |
| NC_000023.9:g.152609137A>G | NCBI36 |
| NG_012016.1:g.7192A>G | |
| NG_012016.2:g.7192A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.376A>G MANE Select | ENSP00000253122.5:p.Ile126Val | |
| ENST00000675713.1:n.130A>G | ||
| ENST00000253122.9:c.376A>G | ENSP00000253122.5:p.Ile126Val | |
| ENST00000430077.6:c.31A>G | ENSP00000403041.2:p.Ile11Val | |
| ENST00000476466.1:n.228A>G | ||
| NM_001142805.1:c.376A>G | NP_001136277.1:p.Ile126Val | |
| NM_001142806.1:c.31A>G | NP_001136278.1:p.Ile11Val | |
| NM_005629.3:c.376A>G | NP_005620.1:p.Ile126Val | |
| NM_005629.4:c.376A>G MANE Select | NP_005620.1:p.Ile126Val | |
| NM_001142805.2:c.376A>G | NP_001136277.1:p.Ile126Val |