HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132469C= , CM000669.2:g.147132469C= | GRCh38 |
NC_000007.13:g.146829561C= , CM000669.1:g.146829561C= | GRCh37 |
NC_000007.12:g.146460494C= | NCBI36 |
NG_007092.2:g.1021109C= | |
NG_007092.3:g.1021469C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1308C= MANE Select | ENSP00000354778.3:p.Asn436= | |
ENST00000636561.1:n.1211C= | ||
ENST00000636870.1:n.1170C= | ||
ENST00000637150.1:n.1237C= | ||
ENST00000637694.1:n.1211C= | ||
ENST00000637825.1:n.791C= | ||
ENST00000638117.1:n.1211C= | ||
ENST00000361727.7:c.1308C= | ENSP00000354778.3:p.Asn436= | |
NM_014141.5:c.1308C= | NP_054860.1:p.Asn436= | |
XM_017011950.2:c.1308C= | XP_016867439.1:p.Asn436= | |
NM_014141.6:c.1308C= MANE Select | NP_054860.1:p.Asn436= |