Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50201508G>A , CM000679.2:g.50201508G>A | GRCh38 |
| NC_000017.10:g.48278869G>A , CM000679.1:g.48278869G>A | GRCh37 |
| NC_000017.9:g.45633868G>A | NCBI36 |
| NG_007400.1:g.5132C>T , LRG_1:g.5132C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000088.4:c.6C>T MANE Select | NP_000079.2:p.Phe2= |
| ENST00000225964.10:c.6C>T MANE Select | ENSP00000225964.6:p.Phe2= |
| NM_000088.3:c.6C>T , LRG_1t1:c.6C>T | NP_000079.2:p.Phe2= |
| ENST00000225964.9:c.6C>T | ENSP00000225964.5:p.Phe2= |
| ENST00000474644.1:n.125C>T | |
| XM_005257058.3:c.6C>T | XP_005257115.2:p.Phe2= |
| XM_005257058.4:c.6C>T | XP_005257115.2:p.Phe2= |
| XM_005257059.3:c.6C>T | XP_005257116.2:p.Phe2= |
| XM_005257059.4:c.6C>T | XP_005257116.2:p.Phe2= |
| XM_011524341.1:c.6C>T | XP_011522643.1:p.Phe2= |