HGVS | Genome Assembly |
---|---|
NC_000018.10:g.13884871T>A , CM000680.2:g.13884871T>A | GRCh38 |
NC_000018.9:g.13884870T>A , CM000680.1:g.13884870T>A | GRCh37 |
NC_000018.8:g.13874870T>A | NCBI36 |
NG_011819.1:g.35666A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327606.4:c.648A>T MANE Select | ENSP00000333821.2:p.Lys216Asn | |
ENST00000327606.3:c.648A>T | ENSP00000333821.2:p.Lys216Asn | |
NM_000529.2:c.648A>T MANE Select | NP_000520.1:p.Lys216Asn | |
NM_001291911.1:c.648A>T | NP_001278840.1:p.Lys216Asn | |
XM_017025781.1:c.648A>T | XP_016881270.1:p.Lys216Asn |