Linked Data
ClinVar Variation Id:
3225321
ClinVar RCV Id:
RCV004523969
dbSNP Id:
rs761766361
ExAC:
3:178921558 A / T
gnomAD v2:
3-178921558-A-T
gnomAD v4:
3-179203770-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179203770A>T , CM000665.2:g.179203770A>T | GRCh38 |
| NC_000003.11:g.178921558A>T , CM000665.1:g.178921558A>T | GRCh37 |
| NC_000003.10:g.180404252A>T | NCBI36 |
| NG_012113.2:g.60248A>T , LRG_310:g.60248A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1040A>T MANE Select | ENSP00000263967.3:p.Asn347Ile | |
| ENST00000643187.1:c.1040A>T | ENSP00000493507.1:p.Asn347Ile | |
| ENST00000674534.1:n.794A>T | ||
| ENST00000675467.1:n.3847A>T | ||
| ENST00000675786.1:c.1040A>T | ENSP00000502323.1:p.Asn347Ile | |
| ENST00000263967.3:c.1040A>T | ENSP00000263967.3:p.Asn347Ile | |
| NM_006218.2:c.1040A>T , LRG_310t1:c.1040A>T | NP_006209.2:p.Asn347Ile | |
| XM_006713658.2:c.1040A>T | XP_006713721.1:p.Asn347Ile | |
| XM_011512894.1:c.1040A>T | XP_011511196.1:p.Asn347Ile | |
| NM_006218.3:c.1040A>T | NP_006209.2:p.Asn347Ile | |
| XM_006713658.4:c.1040A>T | XP_006713721.1:p.Asn347Ile | |
| XM_011512894.2:c.1040A>T | XP_011511196.1:p.Asn347Ile | |
| NM_006218.4:c.1040A>T MANE Select | NP_006209.2:p.Asn347Ile |