HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50192729T>A , CM000685.2:g.50192729T>A | GRCh38 |
NC_000023.10:g.49957380T>A , CM000685.1:g.49957380T>A | GRCh37 |
NC_000023.9:g.49844120T>A | NCBI36 |
NG_012552.1:g.13285A>T | |
NG_012552.2:g.13285A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358526.7:c.1984A>T MANE Select | ENSP00000351327.2:p.Lys662Ter | |
ENST00000358526.6:c.1984A>T | ENSP00000351327.2:p.Lys662Ter | |
ENST00000376064.7:c.1957A>T | ENSP00000365232.3:p.Lys653Ter | |
ENST00000481402.5:n.2096A>T | ||
NM_003886.2:c.1984A>T | NP_003877.2:p.Lys662Ter | |
NM_139289.1:c.1957A>T | NP_647450.1:p.Lys653Ter | |
NM_003886.3:c.1984A>T MANE Select | NP_003877.2:p.Lys662Ter | |
NM_139289.2:c.1957A>T | NP_647450.1:p.Lys653Ter |