Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50915373C>G , CM000676.2:g.50915373C>G | GRCh38 |
| NC_000014.8:g.51382091C>G , CM000676.1:g.51382091C>G | GRCh37 |
| NC_000014.7:g.50451841C>G | NCBI36 |
| NG_012796.1:g.34158G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002863.5:c.1366G>C MANE Select | NP_002854.3:p.Val456Leu |
| ENST00000216392.8:c.1366G>C MANE Select | ENSP00000216392.7:p.Val456Leu |
| NM_001163940.1:c.1264G>C | NP_001157412.1:p.Val422Leu |
| NM_001163940.2:c.1264G>C | NP_001157412.1:p.Val422Leu |
| NM_002863.4:c.1366G>C | NP_002854.3:p.Val456Leu |
| ENST00000216392.7:c.1366G>C | ENSP00000216392.7:p.Val456Leu |
| ENST00000528757.2:n.243G>C | |
| ENST00000532462.5:c.1366G>C | ENSP00000431657.1:p.Val456Leu |
| ENST00000544180.6:c.1264G>C | ENSP00000443787.1:p.Val422Leu |