Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812300G>C , CM000664.2:g.218812300G>C | GRCh38 |
| NC_000002.11:g.219677023G>C , CM000664.1:g.219677023G>C | GRCh37 |
| NC_000002.10:g.219385267G>C | NCBI36 |
| NG_007959.1:g.35552G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.525G>C MANE Select | NP_000775.1:p.Thr175= |
| ENST00000258415.9:c.525G>C MANE Select | ENSP00000258415.4:p.Thr175= |
| NM_000784.3:c.525G>C | NP_000775.1:p.Thr175= |
| ENST00000258415.8:c.525G>C | ENSP00000258415.4:p.Thr175= |
| ENST00000411688.1:c.243G>C | ENSP00000392671.1:p.Thr81= |
| ENST00000445971.1:c.334G>C | ENSP00000404945.1:p.Gly112Arg |
| ENST00000466602.1:n.343G>C | |
| ENST00000494263.5:n.959G>C | |
| XM_017003488.2:c.105G>C | XP_016858977.1:p.Thr35= |