HGVS | Genome Assembly |
---|---|
NC_000001.11:g.34761489C>G , CM000663.2:g.34761489C>G | GRCh38 |
NC_000001.10:g.35227090C>G , CM000663.1:g.35227090C>G | GRCh37 |
NC_000001.9:g.34999677C>G | NCBI36 |
NG_016243.1:g.6749C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000339480.3:c.235C>G (GJB4) MANE Select | ENSP00000345868.1:p.Leu79Val | |
ENST00000339480.1:c.235C>G (GJB4) | ENSP00000345868.1:p.Leu79Val | |
ENST00000426886.1:c.208-43080G>C (SMIM12) | ENSP00000429902.1:n.208-43080G>C | |
NM_153212.2:c.235C>G (GJB4) | NP_694944.1:p.Leu79Val | |
XM_011540679.1:c.235C>G (GJB4) | XP_011538981.1:p.Leu79Val | |
XR_947179.1:n.1002-18040G>C | ||
XM_011540679.2:c.235C>G (GJB4) | XP_011538981.1:p.Leu79Val | |
XR_001737967.1:n.1023+36882G>C | ||
NM_153212.3:c.235C>G (GJB4) MANE Select | NP_694944.1:p.Leu79Val |