Linked Data
dbSNP Id:
rs1731920778
gnomAD v3:
4-67754003-C-T
gnomAD v4:
4-67754003-C-T
MyVariant Identifiers:
chr4:g.68619721C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754003C>T , CM000666.2:g.67754003C>T | GRCh38 |
| NC_000004.11:g.68619721C>T , CM000666.1:g.68619721C>T | GRCh37 |
| NC_000004.10:g.68302316C>T | NCBI36 |
| NG_009293.1:g.7084G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.333G>A MANE Select | ENSP00000226413.5:p.Glu111= | |
| ENST00000226413.4:c.333G>A | ENSP00000226413.4:p.Glu111= | |
| ENST00000420975.2:c.333G>A | ENSP00000397561.2:p.Glu111= | |
| NM_000406.2:c.333G>A | NP_000397.1:p.Glu111= | |
| NM_001012763.1:c.333G>A | NP_001012781.1:p.Glu111= | |
| NM_000406.3:c.333G>A MANE Select | NP_000397.1:p.Glu111= | |
| NM_001012763.2:c.333G>A | NP_001012781.1:p.Glu111= |