HGVS | Genome Assembly |
---|---|
NC_000011.10:g.60441274T>C , CM000673.2:g.60441274T>C | GRCh38 |
NC_000011.9:g.60208747T>C , CM000673.1:g.60208747T>C | GRCh37 |
NC_000011.8:g.59965323T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000300190.7:c.493-6375T>C MANE Select | ENSP00000300190.2:n.493-6375T>C | |
ENST00000300190.6:c.493-6375T>C | ENSP00000300190.2:n.493-6375T>C | |
ENST00000528093.1:c.136-6375T>C | ||
ENST00000528905.1:c.260-6375T>C | ||
ENST00000531403.5:c.*101-6375T>C | ENSP00000435192.1:n.*101-6375T>C | |
ENST00000533885.5:c.*103+5759T>C | ENSP00000435330.1:n.*103+5759T>C | |
NM_023945.2:c.493-6375T>C | NP_076434.2:n.493-6375T>C | |
NM_023945.3:c.493-6375T>C MANE Select | NP_076434.2:n.493-6375T>C |