Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124016035A>G , CM000673.2:g.124016035A>G | GRCh38 |
| NC_000011.9:g.123886742A>G , CM000673.1:g.123886742A>G | GRCh37 |
| NC_000011.8:g.123391952A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001004462.2:c.461A>G MANE Select | NP_001004462.1:p.His154Arg |
| ENST00000641722.1:c.461A>G MANE Select | ENSP00000493036.1:p.His154Arg |
| NM_001004462.1:c.461A>G | NP_001004462.1:p.His154Arg |
| ENST00000320891.4:c.461A>G | ENSP00000325076.3:p.His154Arg |
| ENST00000641521.1:c.461A>G | ENSP00000493354.1:p.His154Arg |