Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31996967T>C , CM000682.2:g.31996967T>C | GRCh38 |
| NC_000020.10:g.30584770T>C , CM000682.1:g.30584770T>C | GRCh37 |
| NC_000020.9:g.30048431T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001011718.2:c.1250T>C MANE Select | NP_001011718.1:p.Met417Thr |
| ENST00000562532.3:c.1250T>C MANE Select | ENSP00000477059.1:p.Met417Thr |
| NM_001011718.1:c.1250T>C | NP_001011718.1:p.Met417Thr |
| ENST00000562532.2:c.1250T>C | ENSP00000477059.1:p.Met417Thr |