Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45118039A>C , CM000679.2:g.45118039A>C | GRCh38 |
| NC_000017.10:g.43195406A>C , CM000679.1:g.43195406A>C | GRCh37 |
| NC_000017.9:g.40550932A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619929.5:c.1215T>G MANE Select | ENSP00000479636.1:p.Ile405Met | |
| ENST00000619929.4:c.1215T>G | ENSP00000479636.1:p.Ile405Met | |
| NM_133373.4:c.1215T>G | NP_588614.1:p.Ile405Met | |
| XM_011524253.1:c.1215T>G | XP_011522555.1:p.Ile405Met | |
| XM_011524253.3:c.1215T>G | XP_011522555.1:p.Ile405Met | |
| XM_024450554.1:c.1215T>G | XP_024306322.1:p.Ile405Met | |
| NM_133373.5:c.1215T>G MANE Select | NP_588614.1:p.Ile405Met |