HGVS | Genome Assembly |
---|---|
NC_000004.12:g.103656275A>T , CM000666.2:g.103656275A>T | GRCh38 |
NC_000004.11:g.104577432A>T , CM000666.1:g.104577432A>T | GRCh37 |
NC_000004.10:g.104796881A>T | NCBI36 |
NG_023344.1:g.68542T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304883.3:c.807T>A MANE Select | ENSP00000303325.2:p.Ile269= | |
ENST00000304883.2:c.807T>A | ENSP00000303325.2:p.Ile269= | |
NM_001059.2:c.807T>A | NP_001050.1:p.Ile269= | |
NM_001059.3:c.807T>A MANE Select | NP_001050.1:p.Ile269= |