Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4594352T>C , CM000673.2:g.4594352T>C | GRCh38 |
| NC_000011.9:g.4615582T>C , CM000673.1:g.4615582T>C | GRCh37 |
| NC_000011.8:g.4572158T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001005169.1:c.314T>C MANE Select | NP_001005169.1:p.Met105Thr |
| ENST00000530443.4:c.314T>C MANE Select | ENSP00000436453.1:p.Met105Thr |
| ENST00000450052.3:c.389T>C | ENSP00000409094.3:p.Met130Thr |
| ENST00000530443.2:c.314T>C | ENSP00000436453.1:p.Met105Thr |
| ENST00000530443.3:c.314T>C | ENSP00000436453.1:p.Met105Thr |