HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55125581G>T , CM000666.2:g.55125581G>T | GRCh38 |
NC_000004.11:g.55991748G>T , CM000666.1:g.55991748G>T | GRCh37 |
NC_000004.10:g.55686505G>T | NCBI36 |
NG_012004.1:g.5015C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263923.5:c.-288C>A MANE Select | ENSP00000263923.4:n.-288C>A | |
ENST00000263923.4:c.-288C>A | ENSP00000263923.4:n.-288C>A | |
NM_002253.2:c.-288C>A | NP_002244.1:n.-288C>A | |
NM_002253.3:c.-288C>A | NP_002244.1:n.-288C>A | |
NM_002253.4:c.-288C>A MANE Select | NP_002244.1:n.-288C>A |