Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.77046524A>G , CM000667.2:g.77046524A>G | GRCh38 |
| NC_000005.9:g.76342349A>G , CM000667.1:g.76342349A>G | GRCh37 |
| NC_000005.8:g.76378105A>G | NCBI36 |
| NG_027822.1:g.21140A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018046.5:c.1048A>G MANE Select | NP_060516.2:p.Ile350Val |
| ENST00000312916.12:c.1048A>G MANE Select | ENSP00000316109.7:p.Ile350Val |
| NM_018046.4:c.1048A>G | NP_060516.2:p.Ile350Val |
| ENST00000312916.11:c.1048A>G | ENSP00000316109.7:p.Ile350Val |
| ENST00000646704.1:c.913A>G | ENSP00000495089.1:p.Ile305Val |