Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23837741T>G , CM000675.2:g.23837741T>G | GRCh38 |
| NC_000013.10:g.24411880T>G , CM000675.1:g.24411880T>G | GRCh37 |
| NC_000013.9:g.23309880T>G | NCBI36 |
| NG_052977.1:g.56708A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005932.4:c.1354A>C MANE Select | NP_005923.3:p.Ile452Leu |
| ENST00000382172.4:c.1354A>C MANE Select | ENSP00000371607.3:p.Ile452Leu |
| NM_005932.3:c.1354A>C | NP_005923.2:p.Ile452Leu |
| ENST00000382172.3:c.1354A>C | ENSP00000371607.3:p.Ile452Leu |
| XM_011535097.1:c.1168A>C | XP_011533399.1:p.Ile390Leu |
| XM_011535097.2:c.1168A>C | XP_011533399.1:p.Ile390Leu |
| XM_011535098.1:c.1354A>C | XP_011533400.1:p.Ile452Leu |
| XM_011535098.3:c.1354A>C | XP_011533400.1:p.Ile452Leu |