HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15930685A>T , CM000663.2:g.15930685A>T | GRCh38 |
NC_000001.10:g.16257180A>T , CM000663.1:g.16257180A>T | GRCh37 |
NC_000001.9:g.16129767A>T | NCBI36 |
NG_050663.1:g.87822A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000438066.2:c.*5296A>T | ENSP00000388021.2:n.*5296A>T | |
ENST00000704274.1:c.42A>T | ||
ENST00000375759.8:c.4445A>T MANE Select | ENSP00000364912.3:p.Lys1482Met | |
ENST00000375759.7:c.4445A>T | ENSP00000364912.3:p.Lys1482Met | |
NM_015001.2:c.4445A>T | NP_055816.2:p.Lys1482Met | |
NM_015001.3:c.4445A>T MANE Select | NP_055816.2:p.Lys1482Met |