Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2718501C>A , CM000671.2:g.2718501C>A | GRCh38 |
| NC_000009.11:g.2718501C>A , CM000671.1:g.2718501C>A | GRCh37 |
| NC_000009.10:g.2708501C>A | NCBI36 |
| NG_012181.1:g.5976C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_133497.4:c.762C>A MANE Select | NP_598004.1:p.Phe254Leu |
| ENST00000382082.4:c.762C>A MANE Select | ENSP00000371514.3:p.Phe254Leu |
| NM_133497.3:c.762C>A | NP_598004.1:p.Phe254Leu |
| ENST00000382082.3:c.762C>A | ENSP00000371514.3:p.Phe254Leu |
| XR_929202.1:n.1263C>A | |
| XR_929203.1:n.1263C>A |