Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739693G>A , CM000670.2:g.86739693G>A | GRCh38 |
| NC_000008.10:g.87751921G>A , CM000670.1:g.87751921G>A | GRCh37 |
| NC_000008.9:g.87821037G>A | NCBI36 |
| NG_016980.1:g.8983C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.173C>T MANE Select | ENSP00000316605.5:p.Thr58Ile | |
| ENST00000681746.1:c.173C>T | ENSP00000505959.1:p.Thr58Ile | |
| ENST00000320005.5:c.173C>T | ENSP00000316605.5:p.Thr58Ile | |
| ENST00000519777.1:n.155C>T | ||
| NM_019098.4:c.173C>T | NP_061971.3:p.Thr58Ile | |
| NM_019098.5:c.173C>T MANE Select | NP_061971.3:p.Thr58Ile |