Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29232448T>A , CM000664.2:g.29232448T>A | GRCh38 |
| NC_000002.11:g.29455314T>A , CM000664.1:g.29455314T>A | GRCh37 |
| NC_000002.10:g.29308818T>A | NCBI36 |
| NG_009445.1:g.694119A>T , LRG_488:g.694119A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.2488A>T MANE Select | NP_004295.2:p.Met830Leu |
| ENST00000389048.8:c.2488A>T MANE Select | ENSP00000373700.3:p.Met830Leu |
| NM_004304.4:c.2488A>T | NP_004295.2:p.Met830Leu |
| ENST00000389048.7:c.2488A>T | ENSP00000373700.3:p.Met830Leu |
| ENST00000618119.4:c.1357A>T | ENSP00000482733.1:p.Met453Leu |
| XR_001738688.2:n.3418A>T |