Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10763739A>G , CM000673.2:g.10763739A>G | GRCh38 |
| NC_000011.9:g.10785286A>G , CM000673.1:g.10785286A>G | GRCh37 |
| NC_000011.8:g.10741862A>G | NCBI36 |
| NG_051671.1:g.17753A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361367.7:c.1054A>G MANE Select | ENSP00000355013.2:p.Ile352Val | |
| ENST00000361367.6:c.1054A>G | ENSP00000355013.2:p.Ile352Val | |
| NM_014633.4:c.1054A>G | NP_055448.1:p.Ile352Val | |
| NM_001346279.1:c.1054A>G | NP_001333208.1:p.Ile352Val | |
| NM_014633.5:c.1054A>G MANE Select | NP_055448.1:p.Ile352Val | |
| NM_001346279.2:c.1054A>G | NP_001333208.1:p.Ile352Val |