HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67942737C>A , CM000678.2:g.67942737C>A | GRCh38 |
NC_000016.9:g.67976640C>A , CM000678.1:g.67976640C>A | GRCh37 |
NC_000016.8:g.66534141C>A | NCBI36 |
NG_009778.1:g.6376G>T | |
NG_033098.1:g.30958G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264005.10:c.457G>T MANE Select | ENSP00000264005.5:p.Val153Phe | |
ENST00000264005.9:c.457G>T | ENSP00000264005.5:p.Val153Phe | |
ENST00000570369.5:c.155+124G>T | ||
ENST00000570980.1:c.241G>T | ENSP00000464651.1:p.Val81Phe | |
ENST00000573538.5:c.100G>T | ENSP00000463220.1:p.Val34Phe | |
ENST00000573846.1:n.71G>T | ||
ENST00000575277.1:n.235G>T | ||
ENST00000575467.5:c.*152G>T | ENSP00000460653.1:n.*152G>T | |
NM_000229.1:c.457G>T | NP_000220.1:p.Val153Phe | |
NM_000229.2:c.457G>T MANE Select | NP_000220.1:p.Val153Phe |