Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946179C>A , CM000684.2:g.43946179C>A | GRCh38 |
| NC_000022.10:g.44342059C>A , CM000684.1:g.44342059C>A | GRCh37 |
| NC_000022.9:g.42673392C>A | NCBI36 |
| NG_008631.1:g.27441C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.1243C>A MANE Select | ENSP00000216180.3:p.Gln415Lys | |
| ENST00000216180.7:c.1243C>A | ENSP00000216180.3:p.Gln415Lys | |
| ENST00000406117.6:c.*849+1384C>A | ENSP00000384668.2:n.*849+1384C>A | |
| ENST00000423180.2:c.1231C>A | ENSP00000397987.2:p.Gln411Lys | |
| NM_025225.2:c.1243C>A | NP_079501.2:p.Gln415Lys | |
| NM_025225.3:c.1243C>A MANE Select | NP_079501.2:p.Gln415Lys |