Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104060179G>C , CM000672.2:g.104060179G>C | GRCh38 |
| NC_000010.10:g.105819937G>C , CM000672.1:g.105819937G>C | GRCh37 |
| NC_000010.9:g.105809927G>C | NCBI36 |
| NG_007069.1:g.30702C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.1081C>G MANE Select | NP_000485.3:p.Leu361Val |
| ENST00000648076.2:c.1081C>G MANE Select | ENSP00000497653.1:p.Leu361Val |
| NM_000494.3:c.1081C>G | NP_000485.3:p.Leu361Val |
| ENST00000353479.9:c.1081C>G | ENSP00000340937.5:p.Leu361Val |
| ENST00000369733.7:c.1081C>G | ENSP00000358748.3:p.Leu361Val |
| ENST00000369733.8:c.1081C>G | ENSP00000358748.3:p.Leu361Val |
| ENST00000393211.3:c.1081C>G | ENSP00000376905.3:p.Leu361Val |
| ENST00000488320.1:n.532C>G | |
| ENST00000650263.1:c.1033C>G | ENSP00000497850.1:p.Leu345Val |