HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55125537A>G , CM000666.2:g.55125537A>G | GRCh38 |
NC_000004.11:g.55991704A>G , CM000666.1:g.55991704A>G | GRCh37 |
NC_000004.10:g.55686461A>G | NCBI36 |
NG_012004.1:g.5059T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263923.5:c.-244T>C MANE Select | ENSP00000263923.4:n.-244T>C | |
ENST00000263923.4:c.-244T>C | ENSP00000263923.4:n.-244T>C | |
NM_002253.2:c.-244T>C | NP_002244.1:n.-244T>C | |
NM_002253.3:c.-244T>C | NP_002244.1:n.-244T>C | |
NM_002253.4:c.-244T>C MANE Select | NP_002244.1:n.-244T>C |