Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122221G>T , CM000668.2:g.18122221G>T | GRCh38 |
| NC_000006.11:g.18122452G>T , CM000668.1:g.18122452G>T | GRCh37 |
| NC_000006.10:g.18230431G>T | NCBI36 |
| NG_016750.1:g.5400C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198586.3:c.386C>A MANE Select | NP_940988.2:p.Pro129His |
| ENST00000340650.6:c.386C>A MANE Select | ENSP00000345464.3:p.Pro129His |
| NM_198586.2:c.386C>A | NP_940988.2:p.Pro129His |
| ENST00000340650.4:c.386C>A | ENSP00000345464.3:p.Pro129His |