HGVS | Genome Assembly |
---|---|
NC_000012.12:g.34026837T>A , CM000674.2:g.34026837T>A | GRCh38 |
NC_000012.11:g.34179772T>A , CM000674.1:g.34179772T>A | GRCh37 |
NC_000012.10:g.34071039T>A | NCBI36 |
NG_016389.1:g.9557T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000266483.7:c.1344T>A MANE Select | ENSP00000266483.2:p.Asn448Lys | |
ENST00000266483.6:c.1344T>A | ENSP00000266483.2:p.Asn448Lys | |
ENST00000538927.1:c.369+2678T>A | ENSP00000444084.1:n.369+2678T>A | |
ENST00000541875.1:c.*1084T>A | ENSP00000443142.1:n.*1084T>A | |
NM_032834.3:c.1344T>A | NP_116223.3:p.Asn448Lys | |
XM_024449230.1:c.1164T>A | XP_024304998.1:p.Asn388Lys | |
XM_024449231.1:c.1164T>A | XP_024304999.1:p.Asn388Lys | |
NM_032834.4:c.1344T>A MANE Select | NP_116223.3:p.Asn448Lys |