Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218782367G>C , CM000664.2:g.218782367G>C | GRCh38 |
| NC_000002.11:g.219647090G>C , CM000664.1:g.219647090G>C | GRCh37 |
| NC_000002.10:g.219355334G>C | NCBI36 |
| NG_007959.1:g.5619G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.185G>C MANE Select | ENSP00000258415.4:p.Arg62Pro | |
| ENST00000258415.8:c.185G>C | ENSP00000258415.4:p.Arg62Pro | |
| ENST00000445971.1:c.185G>C | ENSP00000404945.1:p.Arg62Pro | |
| ENST00000466602.1:n.194G>C | ||
| ENST00000494263.5:n.619G>C | ||
| NM_000784.3:c.185G>C | NP_000775.1:p.Arg62Pro | |
| XM_017003488.2:c.-45G>C | XP_016858977.1:n.-45G>C | |
| NM_000784.4:c.185G>C MANE Select | NP_000775.1:p.Arg62Pro |