HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12918738C>A , CM000686.2:g.12918738C>A | GRCh38 |
NC_000024.9:g.15030650C>A , CM000686.1:g.15030650C>A | GRCh37 |
NC_000024.8:g.13540044C>A | NCBI36 |
NG_012831.1:g.19632C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000336079.8:c.*616C>A MANE Select | ENSP00000336725.3:n.*616C>A | |
ENST00000336079.7:c.*616C>A | ENSP00000336725.3:n.*616C>A | |
NM_004660.4:c.*616C>A | NP_004651.2:n.*616C>A | |
XM_006724878.1:c.*616C>A | XP_006724941.1:n.*616C>A | |
NM_001122665.3:c.*616C>A | NP_001116137.1:n.*616C>A | |
NM_001302552.2:c.*616C>A | NP_001289481.1:n.*616C>A | |
NM_001324195.1:c.*616C>A | NP_001311124.1:n.*616C>A | |
NR_136716.1:n.3068C>A | ||
NR_136717.1:n.2830C>A | ||
NR_136718.1:n.3148C>A | ||
NR_136719.1:n.2938C>A | ||
NR_136720.1:n.2999C>A | ||
NR_136721.1:n.2661C>A | ||
NR_136722.1:n.2745C>A | ||
NR_136723.1:n.3063C>A | ||
NR_136724.1:n.2983C>A | ||
XR_001756014.2:n.2763C>A | ||
NM_004660.5:c.*616C>A MANE Select | NP_004651.2:n.*616C>A | |
NM_001302552.3:c.*616C>A | NP_001289481.1:n.*616C>A | |
NM_001324195.2:c.*616C>A | NP_001311124.1:n.*616C>A | |
NR_136716.2:n.2986C>A | ||
NR_136717.2:n.2748C>A | ||
NR_136718.2:n.3066C>A | ||
NR_136719.2:n.2856C>A | ||
NR_136720.2:n.2917C>A | ||
NR_136721.2:n.2651C>A |