Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127854354A>C , CM000671.2:g.127854354A>C | GRCh38 |
| NC_000009.11:g.130616633A>C , CM000671.1:g.130616633A>C | GRCh37 |
| NC_000009.10:g.129656454A>C | NCBI36 |
| NG_009551.1:g.5415T>G , LRG_589:g.5415T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373203.9:c.2T>G MANE Select | ENSP00000362299.4:p.Met1Arg | |
| ENST00000344849.4:c.2T>G | ENSP00000341917.3:p.Met1Arg | |
| ENST00000373203.8:c.2T>G | ENSP00000362299.4:p.Met1Arg | |
| NM_000118.3:c.2T>G , LRG_589t1:c.2T>G | NP_000109.1:p.Met1Arg | |
| NM_001114753.2:c.2T>G , LRG_589t2:c.2T>G | NP_001108225.1:p.Met1Arg | |
| NM_001114753.3:c.2T>G MANE Select | NP_001108225.1:p.Met1Arg |