HGVS | Genome Assembly |
---|---|
NC_000001.11:g.34761505T>G , CM000663.2:g.34761505T>G | GRCh38 |
NC_000001.10:g.35227106T>G , CM000663.1:g.35227106T>G | GRCh37 |
NC_000001.9:g.34999693T>G | NCBI36 |
NG_016243.1:g.6765T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000339480.3:c.251T>G (GJB4) MANE Select | ENSP00000345868.1:p.Val84Gly | |
ENST00000339480.1:c.251T>G (GJB4) | ENSP00000345868.1:p.Val84Gly | |
ENST00000426886.1:c.208-43096A>C (SMIM12) | ENSP00000429902.1:n.208-43096A>C | |
NM_153212.2:c.251T>G (GJB4) | NP_694944.1:p.Val84Gly | |
XM_011540679.1:c.251T>G (GJB4) | XP_011538981.1:p.Val84Gly | |
XR_947179.1:n.1002-18056A>C | ||
XM_011540679.2:c.251T>G (GJB4) | XP_011538981.1:p.Val84Gly | |
XR_001737967.1:n.1023+36866A>C | ||
NM_153212.3:c.251T>G (GJB4) MANE Select | NP_694944.1:p.Val84Gly |