HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128345180A>C , CM000671.2:g.128345180A>C | GRCh38 |
NC_000009.11:g.131107459A>C , CM000671.1:g.131107459A>C | GRCh37 |
NC_000009.10:g.130147280A>C | NCBI36 |
NG_017057.1:g.9621A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000300456.5:c.187A>C MANE Select | ENSP00000300456.3:p.Lys63Gln | |
ENST00000300456.4:c.187A>C | ENSP00000300456.3:p.Lys63Gln | |
ENST00000372870.5:c.231+1899A>C | ENSP00000361961.1:n.231+1899A>C | |
NM_005094.3:c.187A>C | NP_005085.2:p.Lys63Gln | |
XM_017014222.1:c.187A>C | XP_016869711.1:p.Lys63Gln | |
XM_024447391.1:c.187A>C | XP_024303159.1:p.Lys63Gln | |
NM_005094.4:c.187A>C MANE Select | NP_005085.2:p.Lys63Gln |