HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226963T>A , CM000673.2:g.5226963T>A | GRCh38 |
NC_000011.9:g.5248193T>A , CM000673.1:g.5248193T>A | GRCh37 |
NC_000011.8:g.5204769T>A | NCBI36 |
NG_000007.3:g.70653A>T | |
NG_059281.1:g.5109A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.59A>T | ENSP00000494175.1:p.Asn20Ile | |
ENST00000335295.4:c.59A>T MANE Select | ENSP00000333994.3:p.Asn20Ile | |
ENST00000380315.2:c.59A>T | ENSP00000369671.2:p.Asn20Ile | |
ENST00000485743.1:n.110A>T | ||
ENST00000633227.1:c.59A>T | ENSP00000488004.1:p.Asn20Ile | |
NM_000518.4:c.59A>T | NP_000509.1:p.Asn20Ile | |
NM_000518.5:c.59A>T MANE Select | NP_000509.1:p.Asn20Ile |