Linked Data
dbSNP Id:
rs779679020
ExAC:
3:93619672 T / A
gnomAD v2:
3-93619672-T-A
gnomAD v4:
3-93900828-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93900828T>A , CM000665.2:g.93900828T>A | GRCh38 |
| NC_000003.11:g.93619672T>A , CM000665.1:g.93619672T>A | GRCh37 |
| NC_000003.10:g.95102362T>A | NCBI36 |
| NG_009813.1:g.78263A>T , LRG_572:g.78263A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.703A>T | ENSP00000330021.7:p.Asn235Tyr | |
| ENST00000394236.9:c.703A>T MANE Select | ENSP00000377783.3:p.Asn235Tyr | |
| ENST00000407433.6:c.658A>T | ENSP00000385794.2:p.Asn220Tyr | |
| ENST00000647936.1:c.703A>T | ENSP00000496822.1:p.Asn235Tyr | |
| ENST00000648381.1:n.871A>T | ||
| ENST00000648853.1:c.661A>T | ENSP00000497262.1:p.Asn221Tyr | |
| ENST00000649103.1:c.802A>T | ENSP00000497962.1:n.802A>T | |
| ENST00000650591.1:c.799A>T | ENSP00000497376.1:p.Asn267Tyr | |
| ENST00000394236.7:c.703A>T | ENSP00000377783.3:p.Asn235Tyr | |
| ENST00000407433.5:c.310A>T | ENSP00000385794.1:p.Asn104Tyr | |
| NM_000313.3:c.703A>T , LRG_572t1:c.703A>T | NP_000304.2:p.Asn235Tyr | |
| NM_001314077.1:c.799A>T , LRG_572t2:c.799A>T | NP_001301006.1:p.Asn267Tyr | |
| NM_000313.4:c.703A>T MANE Select | NP_000304.2:p.Asn235Tyr | |
| NM_001314077.2:c.799A>T | NP_001301006.1:p.Asn267Tyr |