HGVS | Genome Assembly |
---|---|
NC_000002.12:g.43887290C>G , CM000664.2:g.43887290C>G | GRCh38 |
NC_000002.11:g.44114429C>G , CM000664.1:g.44114429C>G | GRCh37 |
NC_000002.10:g.43967933C>G | NCBI36 |
NG_008247.1:g.113716G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682612.1:c.2262G>C | ||
ENST00000684454.1:n.9359G>C | ||
ENST00000260665.12:c.*1310G>C MANE Select | ENSP00000260665.7:n.*1310G>C | |
ENST00000260665.11:c.*1310G>C | ENSP00000260665.7:n.*1310G>C | |
NM_133259.3:c.*1310G>C | NP_573566.2:n.*1310G>C | |
XR_002958896.1:n.5677G>C | ||
NM_133259.4:c.*1310G>C MANE Select | NP_573566.2:n.*1310G>C |