HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320599A>G , CM000667.2:g.159320599A>G | GRCh38 |
NC_000005.9:g.158747607A>G , CM000667.1:g.158747607A>G | GRCh37 |
NC_000005.8:g.158680185A>G | NCBI36 |
NG_009618.1:g.14875T>C , LRG_71:g.14875T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.-148-79T>C | ENSP00000512849.1:n.-148-79T>C | |
ENST00000696751.1:c.365-79T>C | ENSP00000512850.1:n.365-79T>C | |
ENST00000231228.3:c.483-79T>C MANE Select | ENSP00000231228.2:n.483-79T>C | |
ENST00000231228.2:c.483-79T>C | ENSP00000231228.2:n.483-79T>C | |
NM_002187.2:c.483-79T>C , LRG_71t1:c.483-79T>C | NP_002178.2:n.483-79T>C | |
XR_001742945.1:n.147+3A>G | ||
NM_002187.3:c.483-79T>C MANE Select | NP_002178.2:n.483-79T>C |