HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320504C>A , CM000667.2:g.159320504C>A | GRCh38 |
NC_000005.9:g.158747512C>A , CM000667.1:g.158747512C>A | GRCh37 |
NC_000005.8:g.158680090C>A | NCBI36 |
NG_009618.1:g.14970G>T , LRG_71:g.14970G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.-132G>T | ENSP00000512849.1:n.-132G>T | |
ENST00000696751.1:c.381G>T | ENSP00000512850.1:p.Lys127Asn | |
ENST00000231228.3:c.499G>T MANE Select | ENSP00000231228.2:p.Gly167Trp | |
ENST00000231228.2:c.499G>T | ENSP00000231228.2:p.Gly167Trp | |
NM_002187.2:c.499G>T , LRG_71t1:c.499G>T | NP_002178.2:p.Gly167Trp | |
XR_001742945.1:n.55C>A | ||
NM_002187.3:c.499G>T MANE Select | NP_002178.2:p.Gly167Trp |