HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47733461A>T , CM000679.2:g.47733461A>T | GRCh38 |
NC_000017.10:g.45810827A>T , CM000679.1:g.45810827A>T | GRCh37 |
NC_000017.9:g.43165826A>T | NCBI36 |
NG_012166.1:g.5218A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000177694.2:c.7A>T MANE Select | ENSP00000177694.1:p.Ile3Phe | |
ENST00000177694.1:c.7A>T | ENSP00000177694.1:p.Ile3Phe | |
ENST00000581328.1:n.37A>T | ||
NM_013351.1:c.7A>T | NP_037483.1:p.Ile3Phe | |
XM_011524698.1:c.7A>T | XP_011523000.1:p.Ile3Phe | |
NM_013351.2:c.7A>T MANE Select | NP_037483.1:p.Ile3Phe |