HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99845769C>A , CM000672.2:g.99845769C>A | GRCh38 |
NC_000010.10:g.101605526C>A , CM000672.1:g.101605526C>A | GRCh37 |
NC_000010.9:g.101595516C>A | NCBI36 |
NG_011798.1:g.68064C>A | |
NG_011798.2:g.68172C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647814.1:c.4133C>A MANE Select | ENSP00000497274.1:p.Thr1378Asn | |
ENST00000648523.1:c.21C>A | ||
ENST00000649459.1:n.481C>A | ||
ENST00000370449.8:c.4133C>A | ENSP00000359478.4:p.Thr1378Asn | |
NM_000392.4:c.4133C>A | NP_000383.1:p.Thr1378Asn | |
XM_006717630.2:c.3437C>A | XP_006717693.1:p.Thr1146Asn | |
XR_945604.1:n.4263C>A | ||
XR_945605.1:n.4197C>A | ||
NM_000392.5:c.4133C>A MANE Select | NP_000383.2:p.Thr1378Asn | |
XM_006717630.3:c.3437C>A | XP_006717693.1:p.Thr1146Asn | |
XR_945604.3:n.4317C>A | ||
XR_945605.3:n.4249C>A |