Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4817024T>C , CM000681.2:g.4817024T>C | GRCh38 |
| NC_000019.9:g.4817036T>C , CM000681.1:g.4817036T>C | GRCh37 |
| NC_000019.8:g.4768036T>C | NCBI36 |
| NG_031998.1:g.19719A>G , LRG_358:g.19719A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1354A>G MANE Select | ENSP00000248244.4:p.Ile452Val | |
| ENST00000248244.5:c.1354A>G | ENSP00000248244.4:p.Ile452Val | |
| ENST00000621756.1:c.937A>G | ENSP00000479467.1:p.Ile313Val | |
| NM_182919.3:c.1354A>G , LRG_358t1:c.1354A>G | NP_891549.1:p.Ile452Val | |
| NM_001385678.1:c.1312A>G | NP_001372607.1:p.Ile438Val | |
| NM_001385679.1:c.1219A>G | NP_001372608.1:p.Ile407Val | |
| NM_001385680.1:c.712A>G | NP_001372609.1:p.Ile238Val | |
| NM_182919.4:c.1354A>G MANE Select | NP_891549.1:p.Ile452Val |