HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114713909G>T , CM000663.2:g.114713909G>T | GRCh38 |
NC_000001.10:g.115256530G>T , CM000663.1:g.115256530G>T | GRCh37 |
NC_000001.9:g.115058053G>T | NCBI36 |
NG_007572.1:g.7986C>A , LRG_92:g.7986C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.181C>A MANE Select | ENSP00000358548.4:p.Gln61Lys | |
ENST00000369535.4:c.181C>A | ENSP00000358548.4:p.Gln61Lys | |
NM_002524.4:c.181C>A | NP_002515.1:p.Gln61Lys | |
NM_002524.5:c.181C>A MANE Select | NP_002515.1:p.Gln61Lys |