Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6718113G>C , CM000681.2:g.6718113G>C | GRCh38 |
| NC_000019.9:g.6718124G>C , CM000681.1:g.6718124G>C | GRCh37 |
| NC_000019.8:g.6669124G>C | NCBI36 |
| NG_009557.1:g.7539C>G , LRG_27:g.7539C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.485C>G MANE Select | NP_000055.2:p.Thr162Arg |
| ENST00000245907.11:c.485C>G MANE Select | ENSP00000245907.4:p.Thr162Arg |
| NM_000064.3:c.485C>G | NP_000055.2:p.Thr162Arg |
| ENST00000245907.10:c.485C>G | ENSP00000245907.4:p.Thr162Arg |
| ENST00000594936.1:n.546C>G | |
| ENST00000594936.2:n.546C>G | |
| ENST00000695652.1:c.362C>G | ENSP00000512083.1:p.Thr121Arg |
| ENST00000695693.1:c.485C>G | ENSP00000512104.1:p.Thr162Arg |