HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159322127G>A , CM000667.2:g.159322127G>A | GRCh38 |
NC_000005.9:g.158749135G>A , CM000667.1:g.158749135G>A | GRCh37 |
NC_000005.8:g.158681713G>A | NCBI36 |
NG_009618.1:g.13347C>T , LRG_71:g.13347C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.-148-1607C>T | ENSP00000512849.1:n.-148-1607C>T | |
ENST00000696751.1:c.364+927C>T | ENSP00000512850.1:n.364+927C>T | |
ENST00000231228.3:c.482+267C>T MANE Select | ENSP00000231228.2:n.482+267C>T | |
ENST00000231228.2:c.482+267C>T | ENSP00000231228.2:n.482+267C>T | |
NM_002187.2:c.482+267C>T , LRG_71t1:c.482+267C>T | NP_002178.2:n.482+267C>T | |
XR_001742945.1:n.147+1531G>A | ||
NM_002187.3:c.482+267C>T MANE Select | NP_002178.2:n.482+267C>T |