HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862823T>A , CM000666.2:g.4862823T>A | GRCh38 |
NC_000004.11:g.4864550T>A , CM000666.1:g.4864550T>A | GRCh37 |
NC_000004.10:g.4915451T>A | NCBI36 |
NG_008121.1:g.8159T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382723.5:c.592T>A MANE Select | ENSP00000372170.4:p.Ser198Thr | |
ENST00000382723.4:c.592T>A | ENSP00000372170.4:p.Ser198Thr | |
ENST00000468421.1:n.304T>A | ||
NM_002448.3:c.592T>A MANE Select | NP_002439.2:p.Ser198Thr |