HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50192901G>T , CM000685.2:g.50192901G>T | GRCh38 |
NC_000023.10:g.49957552G>T , CM000685.1:g.49957552G>T | GRCh37 |
NC_000023.9:g.49844292G>T | NCBI36 |
NG_012552.1:g.13113C>A | |
NG_012552.2:g.13113C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358526.7:c.1812C>A MANE Select | ENSP00000351327.2:p.His604Gln | |
ENST00000358526.6:c.1812C>A | ENSP00000351327.2:p.His604Gln | |
ENST00000376064.7:c.1785C>A | ENSP00000365232.3:p.His595Gln | |
ENST00000481402.5:n.1924C>A | ||
NM_003886.2:c.1812C>A | NP_003877.2:p.His604Gln | |
NM_139289.1:c.1785C>A | NP_647450.1:p.His595Gln | |
NM_003886.3:c.1812C>A MANE Select | NP_003877.2:p.His604Gln | |
NM_139289.2:c.1785C>A | NP_647450.1:p.His595Gln |