HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57094615T>A , CM000674.2:g.57094615T>A | GRCh38 |
NC_000012.11:g.57488398T>A , CM000674.1:g.57488398T>A | GRCh37 |
NC_000012.10:g.55774665T>A | NCBI36 |
NG_021272.1:g.21799A>T | |
NG_021272.2:g.42525A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000300131.8:c.1472T>A MANE Select | ENSP00000300131.3:p.Phe491Tyr | |
ENST00000300131.7:c.1472T>A | ENSP00000300131.3:p.Phe491Tyr | |
ENST00000342556.6:c.1280T>A | ENSP00000341491.6:p.Phe427Tyr | |
NM_005967.3:c.1472T>A | NP_005958.1:p.Phe491Tyr | |
XM_005268894.2:c.1280T>A | XP_005268951.1:p.Phe427Tyr | |
NM_001330305.1:c.1280T>A | NP_001317234.1:p.Phe427Tyr | |
NM_005967.4:c.1472T>A MANE Select | NP_005958.1:p.Phe491Tyr | |
NM_001330305.2:c.1280T>A | NP_001317234.1:p.Phe427Tyr |