Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812521A>T , CM000672.2:g.110812521A>T | GRCh38 |
| NC_000010.10:g.112572279A>T , CM000672.1:g.112572279A>T | GRCh37 |
| NC_000010.9:g.112562269A>T | NCBI36 |
| NG_021177.1:g.173125A>T , LRG_382:g.173125A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.2124A>T MANE Select | ENSP00000358532.3:p.Ala708= | |
| ENST00000369519.3:c.2124A>T | ENSP00000358532.3:p.Ala708= | |
| NM_001134363.2:c.2124A>T | NP_001127835.2:p.Ala708= | |
| XM_011539697.1:c.1740A>T | XP_011537999.1:p.Ala580= | |
| XM_017016103.2:c.1959A>T | XP_016871592.1:p.Ala653= | |
| XM_017016104.2:c.1740A>T | XP_016871593.1:p.Ala580= | |
| NM_001134363.3:c.2124A>T MANE Select | NP_001127835.2:p.Ala708= |