HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320308A>T , CM000667.2:g.159320308A>T | GRCh38 |
NC_000005.9:g.158747316A>T , CM000667.1:g.158747316A>T | GRCh37 |
NC_000005.8:g.158679894A>T | NCBI36 |
NG_009618.1:g.15166T>A , LRG_71:g.15166T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.65T>A | ENSP00000512849.1:p.Ile22Asn | |
ENST00000696751.1:c.*190T>A | ENSP00000512850.1:n.*190T>A | |
ENST00000231228.3:c.695T>A MANE Select | ENSP00000231228.2:p.Ile232Asn | |
ENST00000231228.2:c.695T>A | ENSP00000231228.2:p.Ile232Asn | |
NM_002187.2:c.695T>A , LRG_71t1:c.695T>A | NP_002178.2:p.Ile232Asn | |
NM_002187.3:c.695T>A MANE Select | NP_002178.2:p.Ile232Asn |