HGVS | Genome Assembly |
---|---|
NC_000001.11:g.34761541C= , CM000663.2:g.34761541C= | GRCh38 |
NC_000001.10:g.35227142C= , CM000663.1:g.35227142C= | GRCh37 |
NC_000001.9:g.34999729C= | NCBI36 |
NG_016243.1:g.6801C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000339480.3:c.287C= (GJB4) MANE Select | ENSP00000345868.1:p.Ala96= | |
ENST00000339480.1:c.287C= (GJB4) | ENSP00000345868.1:p.Ala96= | |
ENST00000426886.1:c.208-43132G= (SMIM12) | ENSP00000429902.1:n.208-43132G= | |
NM_153212.2:c.287C= (GJB4) | NP_694944.1:p.Ala96= | |
XM_011540679.1:c.287C= (GJB4) | XP_011538981.1:p.Ala96= | |
XR_947179.1:n.1002-18092G= | ||
XM_011540679.2:c.287C= (GJB4) | XP_011538981.1:p.Ala96= | |
XR_001737967.1:n.1023+36830G= | ||
NM_153212.3:c.287C= (GJB4) MANE Select | NP_694944.1:p.Ala96= |