Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913288T>C , CM000674.2:g.110913288T>C | GRCh38 |
| NC_000012.11:g.111351092T>C , CM000674.1:g.111351092T>C | GRCh37 |
| NC_000012.10:g.109835475T>C | NCBI36 |
| NG_007554.1:g.12290A>G , LRG_393:g.12290A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.311A>G MANE Select | ENSP00000228841.8:p.Lys104Arg | |
| ENST00000663220.1:c.254A>G | ENSP00000499568.1:p.Lys85Arg | |
| ENST00000228841.12:c.311A>G | ENSP00000228841.7:p.Lys104Arg | |
| ENST00000548438.1:c.269A>G | ENSP00000447154.1:p.Lys90Arg | |
| ENST00000549029.1:n.142A>G | ||
| NM_000432.3:c.311A>G , LRG_393t1:c.311A>G | NP_000423.2:p.Lys104Arg | |
| NM_000432.4:c.311A>G MANE Select | NP_000423.2:p.Lys104Arg |