Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189009191C>A , CM000664.2:g.189009191C>A | GRCh38 |
| NC_000002.11:g.189873917C>A , CM000664.1:g.189873917C>A | GRCh37 |
| NC_000002.10:g.189582162C>A | NCBI36 |
| NG_007404.1:g.39819C>A , LRG_3:g.39819C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000090.4:c.3793C>A MANE Select | NP_000081.2:p.Leu1265Met |
| ENST00000304636.9:c.3793C>A MANE Select | ENSP00000304408.4:p.Leu1265Met |
| NM_000090.3:c.3793C>A , LRG_3t1:c.3793C>A | NP_000081.1:p.Leu1265Met |
| ENST00000304636.7:c.3793C>A | ENSP00000304408.3:p.Leu1265Met |
| ENST00000317840.9:c.2884C>A | ENSP00000315243.6:p.Leu962Met |
| ENST00000450867.2:c.3694C>A | ENSP00000415346.2:p.Leu1232Met |
| ENST00000487010.1:n.890C>A |