Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667370C>G , CM000683.2:g.31667370C>G | GRCh38 |
| NC_000021.8:g.33039683C>G , CM000683.1:g.33039683C>G | GRCh37 |
| NC_000021.7:g.31961554C>G | NCBI36 |
| NG_008689.1:g.12749C>G , LRG_652:g.12749C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000454.5:c.352C>G MANE Select | NP_000445.1:p.Leu118Val |
| ENST00000270142.11:c.352C>G MANE Select | ENSP00000270142.7:p.Leu118Val |
| NM_000454.4:c.352C>G , LRG_652t1:c.352C>G | NP_000445.1:p.Leu118Val |
| ENST00000270142.10:c.352C>G | ENSP00000270142.6:p.Leu118Val |
| ENST00000389995.4:c.295C>G | ENSP00000374645.4:p.Leu99Val |
| ENST00000470944.1:n.1280C>G |