Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993229A>G , CM000678.2:g.30993229A>G | GRCh38 |
| NC_000016.9:g.31004550A>G , CM000678.1:g.31004550A>G | GRCh37 |
| NC_000016.8:g.30912051A>G | NCBI36 |
| NG_041829.1:g.22280T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052874.5:c.687T>C MANE Select | NP_443106.1:p.Ile229= |
| ENST00000215095.11:c.687T>C MANE Select | ENSP00000215095.5:p.Ile229= |
| NM_052874.4:c.687T>C | NP_443106.1:p.Ile229= |
| ENST00000215095.9:c.687T>C | ENSP00000215095.5:p.Ile229= |
| ENST00000565419.1:c.687T>C | ENSP00000455899.1:p.Ile229= |
| ENST00000565419.2:c.687T>C | ENSP00000455899.1:p.Ile229= |
| ENST00000569638.5:c.435T>C | ENSP00000457067.1:p.Ile145= |
| XM_017022893.1:c.669T>C | XP_016878382.1:p.Ile223= |