HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240874007A>C , CM000664.2:g.240874007A>C | GRCh38 |
NC_000002.11:g.241813424A>C , CM000664.1:g.241813424A>C | GRCh37 |
NC_000002.10:g.241462097A>C | NCBI36 |
NG_008005.1:g.10263A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.625A>C MANE Select | ENSP00000302620.3:p.Lys209Gln | |
ENST00000307503.3:c.625A>C | ENSP00000302620.3:p.Lys209Gln | |
ENST00000476698.1:n.332+958A>C | ||
NM_000030.2:c.625A>C | NP_000021.1:p.Lys209Gln | |
NM_000030.3:c.625A>C MANE Select | NP_000021.1:p.Lys209Gln |