HGVS | Genome Assembly |
---|---|
NC_000019.10:g.17816951T>A , CM000681.2:g.17816951T>A | GRCh38 |
NC_000019.9:g.17927760T>A , CM000681.1:g.17927760T>A | GRCh37 |
NC_000019.8:g.17788760T>A | NCBI36 |
NG_012092.1:g.9561A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000317306.8:c.299A>T MANE Select | ENSP00000321724.6:p.His100Leu | |
ENST00000317306.7:c.299A>T | ENSP00000321724.6:p.His100Leu | |
ENST00000379695.5:c.394A>T | ENSP00000369017.4:p.Ile132Phe | |
ENST00000598577.1:c.320A>T | ||
NM_001265587.1:c.394A>T | NP_001252516.1:p.Ile132Phe | |
NM_005543.3:c.299A>T | NP_005534.2:p.His100Leu | |
NM_001265587.2:c.394A>T | NP_001252516.1:p.Ile132Phe | |
NM_005543.4:c.299A>T MANE Select | NP_005534.2:p.His100Leu |