HGVS | Genome Assembly |
---|---|
NC_000012.12:g.111803885C= , CM000674.2:g.111803885C= | GRCh38 |
NC_000012.11:g.112241689C= , CM000674.1:g.112241689C= | GRCh37 |
NC_000012.10:g.110726072C= | NCBI36 |
NG_012250.1:g.42344C= | |
NG_012250.2:g.41999C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261733.7:c.1433C= MANE Select | ENSP00000261733.2:p.Ala478= | |
ENST00000261733.6:c.1433C= | ENSP00000261733.2:p.Ala478= | |
ENST00000416293.7:c.1292C= | ENSP00000403349.3:p.Ala431= | |
ENST00000548536.1:c.*1309C= | ENSP00000448179.1:n.*1309C= | |
ENST00000549106.1:c.364C= | ||
NM_000690.3:c.1433C= | NP_000681.2:p.Ala478= | |
NM_001204889.1:c.1292C= | NP_001191818.1:p.Ala431= | |
NM_000690.4:c.1433C= MANE Select | NP_000681.2:p.Ala478= | |
NM_001204889.2:c.1292C= | NP_001191818.1:p.Ala431= |