Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17068178T>C , CM000672.2:g.17068178T>C | GRCh38 |
| NC_000010.10:g.17110177T>C , CM000672.1:g.17110177T>C | GRCh37 |
| NC_000010.9:g.17150183T>C | NCBI36 |
| NG_008967.1:g.66640A>G , LRG_540:g.66640A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001081.4:c.2894A>G MANE Select | NP_001072.2:p.Gln965Arg |
| ENST00000377833.10:c.2894A>G MANE Select | ENSP00000367064.4:p.Gln965Arg |
| NM_001081.3:c.2894A>G , LRG_540t1:c.2894A>G | NP_001072.2:p.Gln965Arg |
| ENST00000377833.8:c.2894A>G | ENSP00000367064.4:p.Gln965Arg |
| XM_011519708.1:c.2894A>G | XP_011518010.1:p.Gln965Arg |
| XM_011519708.2:c.2894A>G | XP_011518010.1:p.Gln965Arg |