HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21880750T>A , CM000669.2:g.21880750T>A | GRCh38 |
NC_000007.13:g.21920368T>A , CM000669.1:g.21920368T>A | GRCh37 |
NC_000007.12:g.21886893T>A | NCBI36 |
NG_012886.2:g.342536T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409508.8:c.12244T>A MANE Select | ENSP00000475939.1:p.Phe4082Ile | |
ENST00000328843.10:c.12265T>A | ENSP00000330671.7:p.Phe4089Ile | |
ENST00000409508.7:c.12244T>A | ENSP00000475939.1:p.Phe4082Ile | |
ENST00000620169.4:c.12265T>A | ENSP00000481693.1:p.Phe4089Ile | |
NM_001277115.1:c.12244T>A | NP_001264044.1:p.Phe4082Ile | |
NM_001277115.2:c.12244T>A MANE Select | NP_001264044.1:p.Phe4082Ile |