Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122429G>A , CM000668.2:g.18122429G>A | GRCh38 |
| NC_000006.11:g.18122660G>A , CM000668.1:g.18122660G>A | GRCh37 |
| NC_000006.10:g.18230639G>A | NCBI36 |
| NG_016750.1:g.5192C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198586.3:c.178C>T MANE Select | NP_940988.2:p.His60Tyr |
| ENST00000340650.6:c.178C>T MANE Select | ENSP00000345464.3:p.His60Tyr |
| NM_198586.2:c.178C>T | NP_940988.2:p.His60Tyr |
| ENST00000340650.4:c.178C>T | ENSP00000345464.3:p.His60Tyr |