Linked Data
dbSNP Id:
rs750744790
ExAC:
3:93617309 C / T
gnomAD v2:
3-93617309-C-T
gnomAD v4:
3-93898465-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93898465C>T , CM000665.2:g.93898465C>T | GRCh38 |
| NC_000003.11:g.93617309C>T , CM000665.1:g.93617309C>T | GRCh37 |
| NC_000003.10:g.95099999C>T | NCBI36 |
| NG_009813.1:g.80626G>A , LRG_572:g.80626G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.832G>A | ENSP00000330021.7:p.Asp278Asn | |
| ENST00000394236.9:c.832G>A MANE Select | ENSP00000377783.3:p.Asp278Asn | |
| ENST00000407433.6:c.787G>A | ENSP00000385794.2:p.Asp263Asn | |
| ENST00000647936.1:c.832G>A | ENSP00000496822.1:p.Asp278Asn | |
| ENST00000648381.1:n.1000G>A | ||
| ENST00000648853.1:c.790G>A | ENSP00000497262.1:p.Asp264Asn | |
| ENST00000649103.1:c.931G>A | ENSP00000497962.1:n.931G>A | |
| ENST00000650591.1:c.928G>A | ENSP00000497376.1:p.Asp310Asn | |
| ENST00000394236.7:c.832G>A | ENSP00000377783.3:p.Asp278Asn | |
| ENST00000407433.5:c.439G>A | ENSP00000385794.1:p.Asp147Asn | |
| NM_000313.3:c.832G>A , LRG_572t1:c.832G>A | NP_000304.2:p.Asp278Asn | |
| NM_001314077.1:c.928G>A , LRG_572t2:c.928G>A | NP_001301006.1:p.Asp310Asn | |
| NM_000313.4:c.832G>A MANE Select | NP_000304.2:p.Asp278Asn | |
| NM_001314077.2:c.928G>A | NP_001301006.1:p.Asp310Asn |