Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26061277G>C , CM000663.2:g.26061277G>C | GRCh38 |
| NC_000001.10:g.26387768G>C , CM000663.1:g.26387768G>C | GRCh37 |
| NC_000001.9:g.26260355G>C | NCBI36 |
| NG_033268.1:g.11358C>G , LRG_757:g.11358C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032588.4:c.390C>G MANE Select | NP_115977.2:p.Ile130Met |
| ENST00000374272.4:c.390C>G MANE Select | ENSP00000363390.3:p.Ile130Met |
| NM_032588.3:c.390C>G , LRG_757t1:c.390C>G | NP_115977.2:p.Ile130Met |
| ENST00000374272.3:c.390C>G | ENSP00000363390.3:p.Ile130Met |
| ENST00000483052.1:n.1332C>G | |
| XM_017002559.2:c.390C>G | XP_016858048.1:p.Ile130Met |