Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812396G>A , CM000672.2:g.110812396G>A | GRCh38 |
| NC_000010.10:g.112572154G>A , CM000672.1:g.112572154G>A | GRCh37 |
| NC_000010.9:g.112562144G>A | NCBI36 |
| NG_021177.1:g.173000G>A , LRG_382:g.173000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.1999G>A MANE Select | ENSP00000358532.3:p.Ala667Thr | |
| ENST00000369519.3:c.1999G>A | ENSP00000358532.3:p.Ala667Thr | |
| NM_001134363.2:c.1999G>A | NP_001127835.2:p.Ala667Thr | |
| XM_011539697.1:c.1615G>A | XP_011537999.1:p.Ala539Thr | |
| XM_017016103.2:c.1834G>A | XP_016871592.1:p.Ala612Thr | |
| XM_017016104.2:c.1615G>A | XP_016871593.1:p.Ala539Thr | |
| NM_001134363.3:c.1999G>A MANE Select | NP_001127835.2:p.Ala667Thr |