Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188994266G= , CM000664.2:g.188994266G= | GRCh38 |
| NC_000002.11:g.189858992G= , CM000664.1:g.189858992G= | GRCh37 |
| NC_000002.10:g.189567237G= | NCBI36 |
| NG_007404.1:g.24894G= , LRG_3:g.24894G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1128G= | ENSP00000415346.2:p.Leu376= | |
| ENST00000304636.9:c.1227G= MANE Select | ENSP00000304408.4:p.Leu409= | |
| ENST00000304636.7:c.1227G= | ENSP00000304408.3:p.Leu409= | |
| ENST00000317840.9:c.1227G= | ENSP00000315243.6:p.Leu409= | |
| ENST00000450867.1:c.226G= | ||
| NM_000090.3:c.1227G= , LRG_3t1:c.1227G= | NP_000081.1:p.Leu409= | |
| NM_000090.4:c.1227G= MANE Select | NP_000081.2:p.Leu409= |