Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110644553G>C , CM000672.2:g.110644553G>C | GRCh38 |
| NC_000010.10:g.112404311G>C , CM000672.1:g.112404311G>C | GRCh37 |
| NC_000010.9:g.112394301G>C | NCBI36 |
| NG_021177.1:g.5157G>C , LRG_382:g.5157G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.99G>C MANE Select | ENSP00000358532.3:p.Pro33= | |
| ENST00000369519.3:c.99G>C | ENSP00000358532.3:p.Pro33= | |
| NM_001134363.2:c.99G>C | NP_001127835.2:p.Pro33= | |
| XM_017016103.2:c.26+1113G>C | XP_016871592.1:n.26+1113G>C | |
| NM_001134363.3:c.99G>C MANE Select | NP_001127835.2:p.Pro33= |