Linked Data
dbSNP Id:
rs10462020
ExAC:
1:7880683 T / G
gnomAD v2:
1-7880683-T-G
gnomAD v3:
1-7820623-T-G
gnomAD v4:
1-7820623-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7820623T>G , CM000663.2:g.7820623T>G | GRCh38 |
| NC_000001.10:g.7880683T>G , CM000663.1:g.7880683T>G | GRCh37 |
| NC_000001.9:g.7803270T>G | NCBI36 |
| NG_046850.1:g.41244T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377532.8:c.1940T>G MANE Select | ENSP00000366755.3:p.Val647Gly | |
| ENST00000361923.2:c.1916T>G | ENSP00000355031.2:p.Val639Gly | |
| ENST00000377532.7:c.1940T>G | ENSP00000366755.3:p.Val647Gly | |
| ENST00000613533.4:c.1940T>G | ENSP00000482093.1:p.Val647Gly | |
| ENST00000614998.4:c.1940T>G | ENSP00000479223.1:p.Val647Gly | |
| NM_001289861.1:c.1940T>G | NP_001276790.1:p.Val647Gly | |
| NM_001289862.1:c.1940T>G | NP_001276791.1:p.Val647Gly | |
| NM_001289863.1:c.1919T>G | NP_001276792.1:p.Val640Gly | |
| NM_001289864.1:c.983T>G | NP_001276793.1:p.Val328Gly | |
| NM_016831.2:c.1916T>G | NP_058515.1:p.Val639Gly | |
| XM_005263521.2:c.1940T>G | XP_005263578.1:p.Val647Gly | |
| XM_005263522.2:c.1937T>G | XP_005263579.1:p.Val646Gly | |
| XM_005263523.2:c.1919T>G | XP_005263580.1:p.Val640Gly | |
| XM_005263524.2:c.1940T>G | XP_005263581.1:p.Val647Gly | |
| XM_005263529.2:c.1415T>G | XP_005263586.1:p.Val472Gly | |
| XM_011542384.1:c.1940T>G | XP_011540686.1:p.Val647Gly | |
| XM_011542385.1:c.1940T>G | XP_011540687.1:p.Val647Gly | |
| XM_011542386.1:c.1919T>G | XP_011540688.1:p.Val640Gly | |
| XM_011542387.1:c.1772T>G | XP_011540689.1:p.Val591Gly | |
| XM_011542388.1:c.1592T>G | XP_011540690.1:p.Val531Gly | |
| XM_011542389.1:c.1577T>G | XP_011540691.1:p.Val526Gly | |
| XM_011542390.1:c.1919T>G | XP_011540692.1:p.Val640Gly | |
| XM_005263524.4:c.1940T>G | XP_005263581.1:p.Val647Gly | |
| XM_017002723.2:c.1937T>G | XP_016858212.1:p.Val646Gly | |
| XM_017002724.2:c.1937T>G | XP_016858213.1:p.Val646Gly | |
| XM_017002726.2:c.1916T>G | XP_016858215.1:p.Val639Gly | |
| XM_017002727.1:c.1772T>G | XP_016858216.1:p.Val591Gly | |
| XM_017002728.1:c.1592T>G | XP_016858217.1:p.Val531Gly | |
| XM_017002729.1:c.1577T>G | XP_016858218.1:p.Val526Gly | |
| XM_017002730.2:c.1592T>G | XP_016858219.1:p.Val531Gly | |
| XM_017002731.2:c.1571T>G | XP_016858220.1:p.Val524Gly | |
| XM_017002732.1:c.1571T>G | XP_016858221.1:p.Val524Gly | |
| XM_017002733.2:c.1415T>G | XP_016858222.1:p.Val472Gly | |
| XM_017002734.1:c.1415T>G | XP_016858223.1:p.Val472Gly | |
| XM_017002735.2:c.1415T>G | XP_016858224.1:p.Val472Gly | |
| XM_017002737.1:c.548T>G | XP_016858226.1:p.Val183Gly | |
| XM_017002738.2:c.548T>G | XP_016858227.1:p.Val183Gly | |
| XM_024450585.1:c.1940T>G | XP_024306353.1:p.Val647Gly | |
| XM_024450586.1:c.1940T>G | XP_024306354.1:p.Val647Gly | |
| XM_024450587.1:c.1919T>G | XP_024306355.1:p.Val640Gly | |
| XM_024450588.1:c.1919T>G | XP_024306356.1:p.Val640Gly | |
| XM_024450590.1:c.1916T>G | XP_024306358.1:p.Val639Gly | |
| XM_024450611.1:c.1394T>G | XP_024306379.1:p.Val465Gly | |
| XM_024450612.1:c.1394T>G | XP_024306380.1:p.Val465Gly | |
| NM_001289861.2:c.1940T>G | NP_001276790.1:p.Val647Gly | |
| NM_001289862.2:c.1940T>G | NP_001276791.1:p.Val647Gly | |
| NM_001289863.3:c.1919T>G | NP_001276792.1:p.Val640Gly | |
| NM_001289864.3:c.983T>G | NP_001276793.1:p.Val328Gly | |
| NM_001377275.1:c.1940T>G MANE Select | NP_001364204.1:p.Val647Gly | |
| NM_001377276.1:c.1919T>G | NP_001364205.1:p.Val640Gly | |
| NM_016831.4:c.1916T>G | NP_058515.1:p.Val639Gly |