HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159321824G>A , CM000667.2:g.159321824G>A | GRCh38 |
NC_000005.9:g.158748832G>A , CM000667.1:g.158748832G>A | GRCh37 |
NC_000005.8:g.158681410G>A | NCBI36 |
NG_009618.1:g.13650C>T , LRG_71:g.13650C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-1304C>T | ENSP00000512849.1:n.-148-1304C>T | |
ENST00000696751.1:c.364+1230C>T | ENSP00000512850.1:n.364+1230C>T | |
ENST00000231228.3:c.482+570C>T MANE Select | ENSP00000231228.2:n.482+570C>T | |
ENST00000231228.2:c.482+570C>T | ENSP00000231228.2:n.482+570C>T | |
NM_002187.2:c.482+570C>T , LRG_71t1:c.482+570C>T | NP_002178.2:n.482+570C>T | |
XR_001742945.1:n.147+1228G>A | ||
NM_002187.3:c.482+570C>T MANE Select | NP_002178.2:n.482+570C>T |