HGVS | Genome Assembly |
---|---|
NC_000007.14:g.100647079A>T , CM000669.2:g.100647079A>T | GRCh38 |
NC_000007.13:g.100244702A>T , CM000669.1:g.100244702A>T | GRCh37 |
NC_000007.12:g.100082638A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000160382.10:c.828T>A MANE Select | ENSP00000160382.5:p.Ala276= | |
ENST00000160382.9:c.828T>A | ENSP00000160382.5:p.Ala276= | |
ENST00000487125.1:n.390T>A | ||
NM_016188.4:c.828T>A | NP_057272.1:p.Ala276= | |
XR_927476.1:n.935T>A | ||
NR_134539.1:n.935T>A | ||
NM_016188.5:c.828T>A MANE Select | NP_057272.1:p.Ala276= | |
NR_134539.2:n.922T>A |