HGVS | Genome Assembly |
---|---|
NC_000001.11:g.34761499T>A , CM000663.2:g.34761499T>A | GRCh38 |
NC_000001.10:g.35227100T>A , CM000663.1:g.35227100T>A | GRCh37 |
NC_000001.9:g.34999687T>A | NCBI36 |
NG_016243.1:g.6759T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000339480.3:c.245T>A (GJB4) MANE Select | ENSP00000345868.1:p.Ile82Asn | |
ENST00000339480.1:c.245T>A (GJB4) | ENSP00000345868.1:p.Ile82Asn | |
ENST00000426886.1:c.208-43090A>T (SMIM12) | ENSP00000429902.1:n.208-43090A>T | |
NM_153212.2:c.245T>A (GJB4) | NP_694944.1:p.Ile82Asn | |
XM_011540679.1:c.245T>A (GJB4) | XP_011538981.1:p.Ile82Asn | |
XR_947179.1:n.1002-18050A>T | ||
XM_011540679.2:c.245T>A (GJB4) | XP_011538981.1:p.Ile82Asn | |
XR_001737967.1:n.1023+36872A>T | ||
NM_153212.3:c.245T>A (GJB4) MANE Select | NP_694944.1:p.Ile82Asn |