Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396436T>C , CM000671.2:g.38396436T>C | GRCh38 |
| NC_000009.11:g.38396433T>C , CM000671.1:g.38396433T>C | GRCh37 |
| NC_000009.10:g.38386433T>C | NCBI36 |
| NG_012253.1:g.8732T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.688T>C MANE Select | ENSP00000366927.3:p.Phe230Leu | |
| ENST00000377698.3:c.688T>C | ENSP00000366927.3:p.Phe230Leu | |
| NM_000692.4:c.688T>C | NP_000683.3:p.Phe230Leu | |
| XM_011517802.1:c.688T>C | XP_011516104.1:p.Phe230Leu | |
| XM_011517802.2:c.688T>C | XP_011516104.1:p.Phe230Leu | |
| NM_000692.5:c.688T>C MANE Select | NP_000683.3:p.Phe230Leu |