Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812310C>G , CM000672.2:g.110812310C>G | GRCh38 |
| NC_000010.10:g.112572068C>G , CM000672.1:g.112572068C>G | GRCh37 |
| NC_000010.9:g.112562058C>G | NCBI36 |
| NG_021177.1:g.172914C>G , LRG_382:g.172914C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369519.4:c.1913C>G MANE Select | ENSP00000358532.3:p.Pro638Arg | |
| ENST00000369519.3:c.1913C>G | ENSP00000358532.3:p.Pro638Arg | |
| NM_001134363.2:c.1913C>G | NP_001127835.2:p.Pro638Arg | |
| XM_011539697.1:c.1529C>G | XP_011537999.1:p.Pro510Arg | |
| XM_017016103.2:c.1748C>G | XP_016871592.1:p.Pro583Arg | |
| XM_017016104.2:c.1529C>G | XP_016871593.1:p.Pro510Arg | |
| NM_001134363.3:c.1913C>G MANE Select | NP_001127835.2:p.Pro638Arg |