HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40848325C>T , CM000681.2:g.40848325C>T | GRCh38 |
NC_000019.9:g.41354230C>T , CM000681.1:g.41354230C>T | GRCh37 |
NC_000019.8:g.46046070C>T | NCBI36 |
NG_008377.1:g.7123G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.548G>A MANE Select | ENSP00000301141.4:p.Ser183Asn | |
ENST00000301141.9:c.548G>A | ENSP00000301141.4:p.Ser183Asn | |
ENST00000596719.5:n.399G>A | ||
ENST00000600495.1:c.*360G>A | ENSP00000472905.1:n.*360G>A | |
ENST00000601627.1:c.120-43666C>T | ||
ENST00000610301.1:c.548G>A | ENSP00000477899.1:p.Ser183Asn | |
NM_000762.5:c.548G>A | NP_000753.3:p.Ser183Asn | |
NM_000762.6:c.548G>A MANE Select | NP_000753.3:p.Ser183Asn |