HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154596A>T , CM000668.2:g.3154596A>T | GRCh38 |
NC_000006.11:g.3154830A>T , CM000668.1:g.3154830A>T | GRCh37 |
NC_000006.10:g.3099829A>T | NCBI36 |
NG_042223.1:g.7954T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.605T>A MANE Select | ENSP00000369703.2:p.Ile202Asn | |
ENST00000679400.1:n.661T>A | ||
ENST00000679907.1:n.993T>A | ||
ENST00000680036.1:n.1387T>A | ||
ENST00000680967.1:n.1695T>A | ||
ENST00000333628.3:c.605T>A | ENSP00000369703.2:p.Ile202Asn | |
ENST00000489942.1:n.800T>A | ||
NM_001069.2:c.605T>A | NP_001060.1:p.Ile202Asn | |
NM_001310315.1:c.350T>A | NP_001297244.1:p.Ile117Asn | |
NM_001069.3:c.605T>A MANE Select | NP_001060.1:p.Ile202Asn | |
NM_001310315.2:c.350T>A | NP_001297244.1:p.Ile117Asn |