Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87861970T>C , CM000672.2:g.87861970T>C | GRCh38 |
| NC_000010.10:g.89621727T>C , CM000672.1:g.89621727T>C | GRCh37 |
| NC_000010.9:g.89611707T>C | NCBI36 |
| NG_007466.2:g.3533T>C , LRG_311:g.3533T>C | |
| NG_033079.1:g.6468A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001126049.2:c.518A>G MANE Select | NP_001119521.1:p.Lys173Arg |
| ENST00000445946.5:c.518A>G MANE Select | ENSP00000392204.2:p.Lys173Arg |
| NM_001126049.1:c.518A>G | NP_001119521.1:p.Lys173Arg |
| ENST00000445946.3:c.518A>G | ENSP00000392204.2:p.Lys173Arg |