Linked Data
dbSNP Id:
rs780856697
ExAC:
3:148899887 A / G
gnomAD v2:
3-148899887-A-G
gnomAD v4:
3-149182100-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149182100A>G , CM000665.2:g.149182100A>G | GRCh38 |
| NC_000003.11:g.148899887A>G , CM000665.1:g.148899887A>G | GRCh37 |
| NC_000003.10:g.150382577A>G | NCBI36 |
| NG_011800.1:g.44946T>C | |
| NG_011800.2:g.44946T>C | |
| NG_011800.3:g.44946T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.2459T>C MANE Select | ENSP00000264613.6:p.Val820Ala | |
| ENST00000264613.10:c.2459T>C | ENSP00000264613.6:p.Val820Ala | |
| ENST00000481169.5:c.2246T>C | ENSP00000418773.1:p.Val749Ala | |
| ENST00000490639.5:n.2491T>C | ||
| ENST00000494544.1:c.1808T>C | ENSP00000420545.1:p.Val603Ala | |
| NM_000096.3:c.2459T>C | NP_000087.1:p.Val820Ala | |
| NR_046371.1:n.2499T>C | ||
| XM_006713499.2:c.2459T>C | XP_006713562.1:p.Val820Ala | |
| XM_006713500.2:c.2459T>C | XP_006713563.1:p.Val820Ala | |
| XM_006713501.2:c.2459T>C | XP_006713564.1:p.Val820Ala | |
| XM_006713502.2:c.2459T>C | XP_006713565.1:p.Val820Ala | |
| XM_011512435.1:c.2459T>C | XP_011510737.1:p.Val820Ala | |
| XR_427361.2:n.2717T>C | ||
| XM_006713499.3:c.2459T>C | XP_006713562.1:p.Val820Ala | |
| XM_006713500.4:c.2459T>C | XP_006713563.1:p.Val820Ala | |
| XM_006713501.3:c.2459T>C | XP_006713564.1:p.Val820Ala | |
| XM_011512435.2:c.2459T>C | XP_011510737.1:p.Val820Ala | |
| XM_017005734.2:c.2459T>C | XP_016861223.1:p.Val820Ala | |
| XM_017005735.2:c.2459T>C | XP_016861224.1:p.Val820Ala | |
| XR_427361.3:n.2675T>C | ||
| NM_000096.4:c.2459T>C MANE Select | NP_000087.2:p.Val820Ala | |
| NR_046371.2:n.2283T>C |