Linked Data
dbSNP Id:
rs368607471
ExAC:
3:93615505 C / T
gnomAD v2:
3-93615505-C-T
gnomAD v3:
3-93896661-C-T
gnomAD v4:
3-93896661-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93896661C>T , CM000665.2:g.93896661C>T | GRCh38 |
| NC_000003.11:g.93615505C>T , CM000665.1:g.93615505C>T | GRCh37 |
| NC_000003.10:g.95098195C>T | NCBI36 |
| NG_009813.1:g.82430G>A , LRG_572:g.82430G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.880G>A | ENSP00000330021.7:p.Asp294Asn | |
| ENST00000394236.9:c.880G>A MANE Select | ENSP00000377783.3:p.Asp294Asn | |
| ENST00000407433.6:c.835G>A | ENSP00000385794.2:p.Asp279Asn | |
| ENST00000647936.1:c.880G>A | ENSP00000496822.1:p.Asp294Asn | |
| ENST00000648381.1:n.1048G>A | ||
| ENST00000648853.1:c.838G>A | ENSP00000497262.1:p.Asp280Asn | |
| ENST00000649103.1:c.979G>A | ENSP00000497962.1:n.979G>A | |
| ENST00000650591.1:c.976G>A | ENSP00000497376.1:p.Asp326Asn | |
| ENST00000394236.7:c.880G>A | ENSP00000377783.3:p.Asp294Asn | |
| ENST00000407433.5:c.487G>A | ENSP00000385794.1:p.Asp163Asn | |
| NM_000313.3:c.880G>A , LRG_572t1:c.880G>A | NP_000304.2:p.Asp294Asn | |
| NM_001314077.1:c.976G>A , LRG_572t2:c.976G>A | NP_001301006.1:p.Asp326Asn | |
| NM_000313.4:c.880G>A MANE Select | NP_000304.2:p.Asp294Asn | |
| NM_001314077.2:c.976G>A | NP_001301006.1:p.Asp326Asn |