HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50193078A>T , CM000685.2:g.50193078A>T | GRCh38 |
NC_000023.10:g.49957729A>T , CM000685.1:g.49957729A>T | GRCh37 |
NC_000023.9:g.49844469A>T | NCBI36 |
NG_012552.1:g.12936T>A | |
NG_012552.2:g.12936T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358526.7:c.1635T>A MANE Select | ENSP00000351327.2:p.Ile545= | |
ENST00000358526.6:c.1635T>A | ENSP00000351327.2:p.Ile545= | |
ENST00000376064.7:c.1608T>A | ENSP00000365232.3:p.Ile536= | |
ENST00000448865.5:c.542-56T>A | ENSP00000402403.1:n.542-56T>A | |
ENST00000481402.5:n.1747T>A | ||
NM_003886.2:c.1635T>A | NP_003877.2:p.Ile545= | |
NM_139289.1:c.1608T>A | NP_647450.1:p.Ile536= | |
NM_003886.3:c.1635T>A MANE Select | NP_003877.2:p.Ile545= | |
NM_139289.2:c.1608T>A | NP_647450.1:p.Ile536= |