HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81365409G>A , CM000678.2:g.81365409G>A | GRCh38 |
NC_000016.9:g.81399014G>A , CM000678.1:g.81399014G>A | GRCh37 |
NC_000016.8:g.79956515G>A | NCBI36 |
NG_009007.1:g.55444G>A , LRG_242:g.55444G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*1141G>A | ENSP00000498114.1:n.*1141G>A | |
ENST00000648994.2:c.1433G>A MANE Select | ENSP00000497351.1:p.Ser478Asn | |
ENST00000650388.1:c.967G>A | ENSP00000498081.1:n.967G>A | |
ENST00000568107.2:c.1433G>A | ENSP00000476795.1:p.Ser478Asn | |
NM_022041.3:c.1433G>A , LRG_242t1:c.1433G>A | NP_071324.1:p.Ser478Asn | |
XM_017023734.1:c.794G>A | XP_016879223.1:p.Ser265Asn | |
NM_001377486.1:c.794G>A | NP_001364415.1:p.Ser265Asn | |
NM_022041.4:c.1433G>A MANE Select | NP_071324.1:p.Ser478Asn |