Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.63974736T>C , CM000673.2:g.63974736T>C | GRCh38 |
| NC_000011.9:g.63742208T>C , CM000673.1:g.63742208T>C | GRCh37 |
| NC_000011.8:g.63498784T>C | NCBI36 |
| NG_046750.1:g.5130T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004074.3:c.56T>C MANE Select | NP_004065.1:p.Leu19Pro |
| ENST00000314133.4:c.56T>C MANE Select | ENSP00000321260.3:p.Leu19Pro |
| NM_004074.2:c.56T>C | NP_004065.1:p.Leu19Pro |
| ENST00000314133.3:c.56T>C | ENSP00000321260.3:p.Leu19Pro |
| ENST00000535431.1:c.56T>C | ENSP00000475957.1:p.Leu19Pro |