HGVS | Genome Assembly |
---|---|
NC_000017.11:g.18119509G>A , CM000679.2:g.18119509G>A | GRCh38 |
NC_000017.10:g.18022823G>A , CM000679.1:g.18022823G>A | GRCh37 |
NC_000017.9:g.17963548G>A | NCBI36 |
NG_011634.1:g.15804G>A | |
NG_011634.2:g.15804G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647165.2:c.709G>A MANE Select | ENSP00000495481.1:p.Asp237Asn | |
ENST00000205890.9:c.709G>A | ENSP00000205890.5:p.Asp237Asn | |
ENST00000583079.1:n.342G>A | ||
ENST00000615845.4:c.709G>A | ENSP00000481642.1:p.Asp237Asn | |
NM_016239.3:c.709G>A | NP_057323.3:p.Asp237Asn | |
XM_011523917.1:c.709G>A | XP_011522219.1:p.Asp237Asn | |
XM_011523918.1:c.709G>A | XP_011522220.1:p.Asp237Asn | |
XM_011523919.1:c.709G>A | XP_011522221.1:p.Asp237Asn | |
XM_011523920.1:c.709G>A | XP_011522222.1:p.Asp237Asn | |
XM_011523921.1:c.709G>A | XP_011522223.1:p.Asp237Asn | |
XR_934037.1:n.1368G>A | ||
XR_934038.1:n.1368G>A | ||
XR_934039.1:n.1368G>A | ||
XM_011523918.2:c.709G>A | XP_011522220.1:p.Asp237Asn | |
XM_017024714.2:c.709G>A | XP_016880203.1:p.Asp237Asn | |
XM_017024715.2:c.709G>A | XP_016880204.1:p.Asp237Asn | |
XM_024450780.1:c.709G>A | XP_024306548.1:p.Asp237Asn | |
XM_024450781.1:c.709G>A | XP_024306549.1:p.Asp237Asn | |
XM_024450782.1:c.709G>A | XP_024306550.1:p.Asp237Asn | |
XR_934039.2:n.1407G>A | ||
NM_016239.4:c.709G>A MANE Select | NP_057323.3:p.Asp237Asn |