Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.42087829T>C , CM000674.2:g.42087829T>C | GRCh38 |
| NC_000012.11:g.42481631T>C , CM000674.1:g.42481631T>C | GRCh37 |
| NC_000012.10:g.40767898T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398675.8:c.1280A>G MANE Select | ENSP00000381666.3:p.Lys427Arg | |
| ENST00000280876.6:c.1187A>G | ENSP00000280876.6:p.Lys396Arg | |
| ENST00000398675.7:c.1280A>G | ENSP00000381666.3:p.Lys427Arg | |
| NM_001099650.1:c.1187A>G | NP_001093120.1:p.Lys396Arg | |
| NM_173601.1:c.1280A>G | NP_775872.1:p.Lys427Arg | |
| XM_017019211.1:c.935A>G | XP_016874700.1:p.Lys312Arg | |
| NM_173601.2:c.1280A>G MANE Select | NP_775872.1:p.Lys427Arg | |
| NM_001099650.2:c.1187A>G | NP_001093120.1:p.Lys396Arg |