HGVS | Genome Assembly |
---|---|
NC_000017.11:g.66228071A>T , CM000679.2:g.66228071A>T | GRCh38 |
NC_000017.10:g.64224189A>T , CM000679.1:g.64224189A>T | GRCh37 |
NC_000017.9:g.61654651A>T | NCBI36 |
NG_012045.1:g.6368T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000205948.11:c.190T>A MANE Select | ENSP00000205948.6:p.Phe64Ile | |
ENST00000205948.10:c.190T>A | ENSP00000205948.6:p.Phe64Ile | |
ENST00000577982.1:c.190T>A | ENSP00000464301.1:p.Phe64Ile | |
ENST00000581797.5:c.10T>A | ENSP00000463553.1:p.Phe4Ile | |
NM_000042.2:c.190T>A | NP_000033.2:p.Phe64Ile | |
NM_000042.3:c.190T>A MANE Select | NP_000033.2:p.Phe64Ile |