HGVS | Genome Assembly |
---|---|
NC_000014.9:g.22843371A>T , CM000676.2:g.22843371A>T | GRCh38 |
NC_000014.8:g.23312580A>T , CM000676.1:g.23312580A>T | GRCh37 |
NC_000014.7:g.22382420A>T | NCBI36 |
NG_046989.1:g.11839A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311852.11:c.803A>T MANE Select | ENSP00000308208.6:p.Asn268Ile | |
ENST00000548162.2:c.803A>T | ENSP00000506068.1:p.Asn268Ile | |
ENST00000680097.1:c.*118A>T | ENSP00000506631.1:n.*118A>T | |
ENST00000680941.1:c.*201A>T | ENSP00000506378.1:n.*201A>T | |
ENST00000311852.10:c.803A>T | ENSP00000308208.6:p.Asn268Ile | |
ENST00000548162.1:n.1045A>T | ||
NM_004995.3:c.803A>T | NP_004986.1:p.Asn268Ile | |
NM_004995.4:c.803A>T MANE Select | NP_004986.1:p.Asn268Ile |