Linked Data
dbSNP Id:
rs1282130801
gnomAD v2:
7-23205391-A-G
gnomAD v3:
7-23165772-A-G
gnomAD v4:
7-23165772-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23165772A>G , CM000669.2:g.23165772A>G | GRCh38 |
| NC_000007.13:g.23205391A>G , CM000669.1:g.23205391A>G | GRCh37 |
| NC_000007.12:g.23171916A>G | NCBI36 |
| NG_016983.1:g.65039A>G | |
| NG_016983.2:g.65039A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339077.10:c.1011A>G MANE Select | ENSP00000343273.4:p.Val337= | |
| ENST00000339077.9:c.1011A>G | ENSP00000343273.4:p.Val337= | |
| ENST00000409689.5:c.867A>G | ENSP00000386263.1:p.Val289= | |
| ENST00000521082.5:c.*1019A>G | ENSP00000430351.1:n.*1019A>G | |
| NM_001031710.2:c.1011A>G | NP_001026880.2:p.Val337= | |
| NM_018846.4:c.867A>G | NP_061334.4:p.Val289= | |
| NR_033328.1:n.1435A>G | ||
| XM_006715753.1:c.1050A>G | XP_006715816.1:p.Val350= | |
| XM_006715754.1:c.984A>G | XP_006715817.1:p.Val328= | |
| XM_006715755.1:c.984A>G | XP_006715818.1:p.Val328= | |
| XM_006715756.1:c.906A>G | XP_006715819.1:p.Val302= | |
| XM_006715753.3:c.1050A>G | XP_006715816.1:p.Val350= | |
| XM_006715754.3:c.984A>G | XP_006715817.1:p.Val328= | |
| XM_006715755.3:c.984A>G | XP_006715818.1:p.Val328= | |
| XM_006715756.3:c.906A>G | XP_006715819.1:p.Val302= | |
| XM_017012439.2:c.945A>G | XP_016867928.1:p.Val315= | |
| NM_001031710.3:c.1011A>G MANE Select | NP_001026880.2:p.Val337= | |
| NM_018846.5:c.867A>G | NP_061334.4:p.Val289= | |
| NR_033328.2:n.1384A>G |