HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67436053A>T , CM000678.2:g.67436053A>T | GRCh38 |
NC_000016.9:g.67469956A>T , CM000678.1:g.67469956A>T | GRCh37 |
NC_000016.8:g.66027457A>T | NCBI36 |
NG_011482.1:g.50134T>A | |
NG_016549.1:g.9921A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326152.6:c.575A>T MANE Select | ENSP00000316786.5:p.Asn192Ile | |
ENST00000326152.5:c.575A>T | ENSP00000316786.5:p.Asn192Ile | |
ENST00000566606.1:c.553A>T | ENSP00000473429.1:n.553A>T | |
ENST00000567684.2:n.438A>T | ||
NM_000196.3:c.575A>T | NP_000187.3:p.Asn192Ile | |
NM_000196.4:c.575A>T MANE Select | NP_000187.3:p.Asn192Ile |