Linked Data
ClinVar Variation Id:
498766
dbSNP Id:
rs145481253
ExAC:
3:148927063 T / A
gnomAD v2:
3-148927063-T-A
gnomAD v3:
3-149209276-T-A
gnomAD v4:
3-149209276-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149209276T>A , CM000665.2:g.149209276T>A | GRCh38 |
| NC_000003.11:g.148927063T>A , CM000665.1:g.148927063T>A | GRCh37 |
| NC_000003.10:g.150409753T>A | NCBI36 |
| NG_011800.1:g.17770A>T | |
| NG_011800.2:g.17770A>T | |
| NG_011800.3:g.17770A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.716A>T MANE Select | ENSP00000264613.6:p.Tyr239Phe | |
| ENST00000264613.10:c.716A>T | ENSP00000264613.6:p.Tyr239Phe | |
| ENST00000481169.5:c.716A>T | ENSP00000418773.1:p.Tyr239Phe | |
| ENST00000490639.5:n.748A>T | ||
| ENST00000494544.1:c.65A>T | ENSP00000420545.1:p.Tyr22Phe | |
| NM_000096.3:c.716A>T | NP_000087.1:p.Tyr239Phe | |
| NR_046371.1:n.969A>T | ||
| XM_006713499.2:c.716A>T | XP_006713562.1:p.Tyr239Phe | |
| XM_006713500.2:c.716A>T | XP_006713563.1:p.Tyr239Phe | |
| XM_006713501.2:c.716A>T | XP_006713564.1:p.Tyr239Phe | |
| XM_006713502.2:c.716A>T | XP_006713565.1:p.Tyr239Phe | |
| XM_011512435.1:c.716A>T | XP_011510737.1:p.Tyr239Phe | |
| XR_427361.2:n.974A>T | ||
| XM_006713499.3:c.716A>T | XP_006713562.1:p.Tyr239Phe | |
| XM_006713500.4:c.716A>T | XP_006713563.1:p.Tyr239Phe | |
| XM_006713501.3:c.716A>T | XP_006713564.1:p.Tyr239Phe | |
| XM_011512435.2:c.716A>T | XP_011510737.1:p.Tyr239Phe | |
| XM_017005734.2:c.716A>T | XP_016861223.1:p.Tyr239Phe | |
| XM_017005735.2:c.716A>T | XP_016861224.1:p.Tyr239Phe | |
| XR_427361.3:n.932A>T | ||
| NM_000096.4:c.716A>T MANE Select | NP_000087.2:p.Tyr239Phe | |
| NR_046371.2:n.753A>T |