Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80768042G>A , CM000667.2:g.80768042G>A | GRCh38 |
| NC_000005.9:g.80063861G>A , CM000667.1:g.80063861G>A | GRCh37 |
| NC_000005.8:g.80099617G>A | NCBI36 |
| NG_016607.1:g.118568G>A | |
| NG_016607.2:g.118568G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.2006G>A MANE Select | NP_002430.3:p.Arg669Gln |
| ENST00000265081.7:c.2006G>A MANE Select | ENSP00000265081.6:p.Arg669Gln |
| NM_002439.4:c.2006G>A | NP_002430.3:p.Arg669Gln |
| ENST00000265081.6:c.2006G>A | ENSP00000265081.6:p.Arg669Gln |
| ENST00000658259.1:c.1838G>A | ENSP00000499617.1:p.Arg613Gln |
| ENST00000667069.1:c.1811G>A | ENSP00000499502.1:p.Arg604Gln |
| ENST00000670357.1:c.2006G>A | ENSP00000499791.1:p.Arg669Gln |