HGVS | Genome Assembly |
---|---|
NC_000004.12:g.6696129G>C , CM000666.2:g.6696129G>C | GRCh38 |
NC_000004.11:g.6697856G>C , CM000666.1:g.6697856G>C | GRCh37 |
NC_000004.10:g.6748757G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296370.4:c.139-764G>C MANE Select | ENSP00000296370.3:n.139-764G>C | |
ENST00000296370.3:c.139-764G>C | ENSP00000296370.3:n.139-764G>C | |
ENST00000513778.1:n.36-764G>C | ||
NM_005980.2:c.139-764G>C | NP_005971.1:n.139-764G>C | |
NM_005980.3:c.139-764G>C MANE Select | NP_005971.1:n.139-764G>C |