Linked Data
dbSNP Id:
rs1639712385
COSMIC:
COSM40139
MyVariant Identifiers:
chr1:g.35227101C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34761500C>T , CM000663.2:g.34761500C>T | GRCh38 |
| NC_000001.10:g.35227101C>T , CM000663.1:g.35227101C>T | GRCh37 |
| NC_000001.9:g.34999688C>T | NCBI36 |
| NG_016243.1:g.6760C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339480.3:c.246C>T (GJB4) MANE Select | ENSP00000345868.1:p.Ile82= | |
| ENST00000339480.1:c.246C>T (GJB4) | ENSP00000345868.1:p.Ile82= | |
| ENST00000426886.1:c.208-43091G>A (SMIM12) | ENSP00000429902.1:n.208-43091G>A | |
| NM_153212.2:c.246C>T (GJB4) | NP_694944.1:p.Ile82= | |
| XM_011540679.1:c.246C>T (GJB4) | XP_011538981.1:p.Ile82= | |
| XR_947179.1:n.1002-18051G>A | ||
| XM_011540679.2:c.246C>T (GJB4) | XP_011538981.1:p.Ile82= | |
| XR_001737967.1:n.1023+36871G>A | ||
| NM_153212.3:c.246C>T (GJB4) MANE Select | NP_694944.1:p.Ile82= |