Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812462G>A , CM000672.2:g.110812462G>A | GRCh38 |
| NC_000010.10:g.112572220G>A , CM000672.1:g.112572220G>A | GRCh37 |
| NC_000010.9:g.112562210G>A | NCBI36 |
| NG_021177.1:g.173066G>A , LRG_382:g.173066G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.2065G>A MANE Select | ENSP00000358532.3:p.Asp689Asn | |
| ENST00000369519.3:c.2065G>A | ENSP00000358532.3:p.Asp689Asn | |
| NM_001134363.2:c.2065G>A | NP_001127835.2:p.Asp689Asn | |
| XM_011539697.1:c.1681G>A | XP_011537999.1:p.Asp561Asn | |
| XM_017016103.2:c.1900G>A | XP_016871592.1:p.Asp634Asn | |
| XM_017016104.2:c.1681G>A | XP_016871593.1:p.Asp561Asn | |
| NM_001134363.3:c.2065G>A MANE Select | NP_001127835.2:p.Asp689Asn |