HGVS | Genome Assembly |
---|---|
NC_000023.11:g.68829638G>C , CM000685.2:g.68829638G>C | GRCh38 |
NC_000023.10:g.68049481G>C , CM000685.1:g.68049481G>C | GRCh37 |
NC_000023.9:g.67966206G>C | NCBI36 |
NG_008887.1:g.5642G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000204961.5:c.-139G>C MANE Select | ENSP00000204961.4:n.-139G>C | |
ENST00000204961.4:c.-139G>C | ENSP00000204961.4:n.-139G>C | |
NM_004429.4:c.-139G>C | NP_004420.1:n.-139G>C | |
NM_004429.5:c.-139G>C MANE Select | NP_004420.1:n.-139G>C |