Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231450T>C , CM000667.2:g.55231450T>C | GRCh38 |
| NC_000005.9:g.54527278T>C , CM000667.1:g.54527278T>C | GRCh37 |
| NC_000005.8:g.54563035T>C | NCBI36 |
| NG_034201.1:g.7268A>G | |
| NG_051620.1:g.866A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.978A>G MANE Select | ENSP00000282572.4:p.Ile326Met | |
| ENST00000282572.4:c.978A>G | ENSP00000282572.4:p.Ile326Met | |
| ENST00000501463.2:c.*958A>G | ENSP00000422485.1:n.*958A>G | |
| NM_021147.4:c.978A>G | NP_066970.3:p.Ile326Met | |
| NR_125346.1:n.1548A>G | ||
| NR_125347.1:n.1177A>G | ||
| NR_125348.1:n.1042A>G | ||
| NM_021147.5:c.978A>G MANE Select | NP_066970.3:p.Ile326Met | |
| NR_125346.2:n.1439A>G | ||
| NR_125347.2:n.1068A>G |