HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25007118A>T , CM000685.2:g.25007118A>T | GRCh38 |
NC_000023.10:g.25025235A>T , CM000685.1:g.25025235A>T | GRCh37 |
NC_000023.9:g.24935156A>T | NCBI36 |
NG_008281.1:g.13831T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379044.5:c.1441T>A MANE Select | ENSP00000368332.4:p.Phe481Ile | |
ENST00000637993.1:c.54T>A | ||
ENST00000379044.4:c.1441T>A | ENSP00000368332.4:p.Phe481Ile | |
NM_139058.2:c.1441T>A | NP_620689.1:p.Phe481Ile | |
NM_139058.3:c.1441T>A MANE Select | NP_620689.1:p.Phe481Ile |