HGVS | Genome Assembly |
---|---|
NC_000001.11:g.168293224C>A , CM000663.2:g.168293224C>A | GRCh38 |
NC_000001.10:g.168262462C>A , CM000663.1:g.168262462C>A | GRCh37 |
NC_000001.9:g.166529086C>A | NCBI36 |
NG_008244.1:g.17185C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367821.8:c.549C>A MANE Select | ENSP00000356795.3:p.Asn183Lys | |
ENST00000367821.7:c.549C>A | ENSP00000356795.3:p.Asn183Lys | |
ENST00000431969.5:c.346C>A | ||
NM_005149.2:c.549C>A | NP_005140.1:p.Asn183Lys | |
NM_005149.3:c.549C>A MANE Select | NP_005140.1:p.Asn183Lys |