HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114044185C>A , CM000672.2:g.114044185C>A | GRCh38 |
NC_000010.10:g.115803944C>A , CM000672.1:g.115803944C>A | GRCh37 |
NC_000010.9:g.115793934C>A | NCBI36 |
NG_012187.1:g.5139C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369295.4:c.53C>A MANE Select | ENSP00000358301.2:p.Ser18Ter | |
ENST00000369295.3:c.53C>A | ENSP00000358301.2:p.Ser18Ter | |
NM_000684.2:c.53C>A | NP_000675.1:p.Ser18Ter | |
NM_000684.3:c.53C>A MANE Select | NP_000675.1:p.Ser18Ter |