HGVS | Genome Assembly |
---|---|
NC_000002.12:g.43887229G= , CM000664.2:g.43887229G= | GRCh38 |
NC_000002.11:g.44114368G= , CM000664.1:g.44114368G= | GRCh37 |
NC_000002.10:g.43967872G= | NCBI36 |
NG_008247.1:g.113777C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682612.1:c.2323C= | ||
ENST00000684454.1:n.9420C= | ||
ENST00000260665.12:c.*1371C= MANE Select | ENSP00000260665.7:n.*1371C= | |
ENST00000260665.11:c.*1371C= | ENSP00000260665.7:n.*1371C= | |
NM_133259.3:c.*1371C= | NP_573566.2:n.*1371C= | |
XR_002958896.1:n.5738C= | ||
NM_133259.4:c.*1371C= MANE Select | NP_573566.2:n.*1371C= |