HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50192354T>A , CM000685.2:g.50192354T>A | GRCh38 |
NC_000023.10:g.49957005T>A , CM000685.1:g.49957005T>A | GRCh37 |
NC_000023.9:g.49843745T>A | NCBI36 |
NG_012552.1:g.13660A>T | |
NG_012552.2:g.13660A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358526.7:c.2359A>T MANE Select | ENSP00000351327.2:p.Asn787Tyr | |
ENST00000358526.6:c.2359A>T | ENSP00000351327.2:p.Asn787Tyr | |
ENST00000376064.7:c.2332A>T | ENSP00000365232.3:p.Asn778Tyr | |
ENST00000481402.5:n.2471A>T | ||
NM_003886.2:c.2359A>T | NP_003877.2:p.Asn787Tyr | |
NM_139289.1:c.2332A>T | NP_647450.1:p.Asn778Tyr | |
NM_003886.3:c.2359A>T MANE Select | NP_003877.2:p.Asn787Tyr | |
NM_139289.2:c.2332A>T | NP_647450.1:p.Asn778Tyr |