Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.63974791C>A , CM000673.2:g.63974791C>A | GRCh38 |
| NC_000011.9:g.63742263C>A , CM000673.1:g.63742263C>A | GRCh37 |
| NC_000011.8:g.63498839C>A | NCBI36 |
| NG_046750.1:g.5185C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004074.3:c.111C>A MANE Select | NP_004065.1:p.Ile37= |
| ENST00000314133.4:c.111C>A MANE Select | ENSP00000321260.3:p.Ile37= |
| NM_004074.2:c.111C>A | NP_004065.1:p.Ile37= |
| ENST00000314133.3:c.111C>A | ENSP00000321260.3:p.Ile37= |
| ENST00000535431.1:c.111C>A | ENSP00000475957.1:p.Ile37= |