Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812548A>C , CM000672.2:g.110812548A>C | GRCh38 |
| NC_000010.10:g.112572306A>C , CM000672.1:g.112572306A>C | GRCh37 |
| NC_000010.9:g.112562296A>C | NCBI36 |
| NG_021177.1:g.173152A>C , LRG_382:g.173152A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.2151A>C MANE Select | ENSP00000358532.3:p.Gln717His | |
| ENST00000369519.3:c.2151A>C | ENSP00000358532.3:p.Gln717His | |
| NM_001134363.2:c.2151A>C | NP_001127835.2:p.Gln717His | |
| XM_011539697.1:c.1767A>C | XP_011537999.1:p.Gln589His | |
| XM_017016103.2:c.1986A>C | XP_016871592.1:p.Gln662His | |
| XM_017016104.2:c.1767A>C | XP_016871593.1:p.Gln589His | |
| NM_001134363.3:c.2151A>C MANE Select | NP_001127835.2:p.Gln717His |