HGVS | Genome Assembly |
---|---|
NC_000007.14:g.151187283G= , CM000669.2:g.151187283G= | GRCh38 |
NC_000007.13:g.150884370G= , CM000669.1:g.150884370G= | GRCh37 |
NC_000007.12:g.150515303G= | NCBI36 |
NG_017016.1:g.5550C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000275838.5:c.-153C= | ENSP00000275838.1:n.-153C= | |
ENST00000377867.7:c.271+169C= | ENSP00000367098.3:n.271+169C= | |
ENST00000415615.1:c.*92C= | ENSP00000410871.1:n.*92C= | |
NM_001142459.1:c.-153C= | NP_001135931.2:n.-153C= | |
NM_001142460.1:c.-153C= | NP_001135932.2:n.-153C= | |
NM_080871.3:c.271+169C= | NP_543147.2:n.271+169C= | |
NM_080871.4:c.271+169C= | NP_543147.2:n.271+169C= |