Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100393442G>C , CM000674.2:g.100393442G>C | GRCh38 |
| NC_000012.11:g.100787220G>C , CM000674.1:g.100787220G>C | GRCh37 |
| NC_000012.10:g.99311351G>C | NCBI36 |
| NG_021175.1:g.41364G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323346.10:c.547G>C MANE Select | ENSP00000316909.4:p.Gly183Arg | |
| ENST00000323346.9:c.547G>C | ENSP00000316909.4:p.Gly183Arg | |
| ENST00000392989.3:c.547G>C | ENSP00000376715.3:p.Gly183Arg | |
| NM_001145288.1:c.547G>C | NP_001138760.1:p.Gly183Arg | |
| NM_139319.2:c.547G>C | NP_647480.1:p.Gly183Arg | |
| NM_001145288.2:c.547G>C | NP_001138760.1:p.Gly183Arg | |
| NM_139319.3:c.547G>C MANE Select | NP_647480.1:p.Gly183Arg |