HGVS | Genome Assembly |
---|---|
NC_000001.11:g.25813921G>A , CM000663.2:g.25813921G>A | GRCh38 |
NC_000001.10:g.26140412G>A , CM000663.1:g.26140412G>A | GRCh37 |
NC_000001.9:g.26012999G>A | NCBI36 |
NG_009930.1:g.18746G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000354177.9:c.1257G>A | ENSP00000346109.5:p.Ser419= | |
ENST00000494537.2:c.1415G>A | ENSP00000508308.1:p.Arg472His | |
ENST00000361547.7:c.1428G>A MANE Select | ENSP00000355141.2:p.Ser476= | |
ENST00000354177.8:c.1326G>A | ENSP00000346109.4:p.Ser442= | |
ENST00000361547.6:c.1428G>A | ENSP00000355141.2:p.Ser476= | |
ENST00000374315.1:c.1326G>A | ENSP00000363434.1:p.Ser442= | |
ENST00000494537.1:n.195G>A | ||
ENST00000559265.1:n.255+2042G>A | ||
ENST00000630065.2:c.-145G>A | ENSP00000487549.1:n.-145G>A | |
NM_020451.2:c.1428G>A | NP_065184.2:p.Ser476= | |
NM_206926.1:c.1326G>A | NP_996809.1:p.Ser442= | |
NM_020451.3:c.1428G>A MANE Select | NP_065184.2:p.Ser476= | |
NM_206926.2:c.1326G>A | NP_996809.1:p.Ser442= |