HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88719820T>A , CM000678.2:g.88719820T>A | GRCh38 |
NC_000016.9:g.88786228T>A , CM000678.1:g.88786228T>A | GRCh37 |
NC_000016.8:g.87313729T>A | NCBI36 |
NG_042229.1:g.70401A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.6305A>T MANE Select | ENSP00000301015.9:p.Asn2102Ile | |
ENST00000466823.3:c.331A>T | ||
ENST00000301015.13:c.6305A>T | ENSP00000301015.9:p.Asn2102Ile | |
ENST00000419505.5:c.71A>T | ENSP00000406358.1:p.Asn24Ile | |
ENST00000466823.2:c.331A>T | ||
ENST00000495568.7:n.546A>T | ||
ENST00000497793.2:n.460A>T | ||
NM_001142864.2:c.6305A>T | NP_001136336.2:p.Asn2102Ile | |
NM_001142864.3:c.6305A>T | NP_001136336.2:p.Asn2102Ile | |
NM_001142864.4:c.6305A>T MANE Select | NP_001136336.2:p.Asn2102Ile |