Linked Data
dbSNP Id:
rs12234571
gnomAD v2:
7-77549906-T-G
gnomAD v3:
7-77920589-T-G
gnomAD v4:
7-77920589-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.77920589T>G , CM000669.2:g.77920589T>G | GRCh38 |
| NC_000007.13:g.77549906T>G , CM000669.1:g.77549906T>G | GRCh37 |
| NC_000007.12:g.77387842T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422959.8:c.861+124T>G MANE Select | ENSP00000403042.2:n.861+124T>G | |
| ENST00000248550.7:c.963+124T>G | ENSP00000248550.7:n.963+124T>G | |
| ENST00000275575.11:c.849+124T>G | ENSP00000275575.7:n.849+124T>G | |
| ENST00000307305.12:c.849+124T>G | ENSP00000307699.8:n.849+124T>G | |
| ENST00000415251.6:c.849+124T>G | ENSP00000408035.2:n.849+124T>G | |
| ENST00000416283.6:c.963+124T>G | ENSP00000400958.3:n.963+124T>G | |
| ENST00000422959.6:c.861+124T>G | ENSP00000403042.2:n.861+124T>G | |
| ENST00000424760.5:c.849+124T>G | ENSP00000403620.1:n.849+124T>G | |
| ENST00000450574.5:c.861+124T>G | ENSP00000387355.1:n.861+124T>G | |
| ENST00000454592.5:n.884+124T>G | ||
| ENST00000468351.1:n.41+124T>G | ||
| ENST00000479515.1:n.1662+124T>G | ||
| NM_001127357.1:c.861+124T>G | NP_001120829.1:n.861+124T>G | |
| NM_001127358.1:c.849+124T>G | NP_001120830.1:n.849+124T>G | |
| NM_001127359.1:c.861+124T>G | NP_001120831.1:n.861+124T>G | |
| NM_001127360.1:c.849+124T>G | NP_001120832.1:n.849+124T>G | |
| NM_020432.4:c.849+124T>G | NP_065165.3:n.849+124T>G | |
| XM_005250508.3:c.861+124T>G | XP_005250565.1:n.861+124T>G | |
| XM_005250509.3:c.861+124T>G | XP_005250566.1:n.861+124T>G | |
| XM_006716063.2:c.861+124T>G | XP_006716126.1:n.861+124T>G | |
| XM_011516422.1:c.861+124T>G | XP_011514724.1:n.861+124T>G | |
| XM_011516423.1:c.861+124T>G | XP_011514725.1:n.861+124T>G | |
| XM_011516424.1:c.438+124T>G | XP_011514726.1:n.438+124T>G | |
| NM_001366081.1:c.849+124T>G | NP_001353010.1:n.849+124T>G | |
| NM_001366082.1:c.849+124T>G | NP_001353011.1:n.849+124T>G | |
| NM_001366083.1:c.849+124T>G | NP_001353012.1:n.849+124T>G | |
| NM_001366084.1:c.849+124T>G | NP_001353013.1:n.849+124T>G | |
| NM_001366085.1:c.849+124T>G | NP_001353014.1:n.849+124T>G | |
| NM_001366086.1:c.849+124T>G | NP_001353015.1:n.849+124T>G | |
| NM_001366087.1:c.849+124T>G | NP_001353016.1:n.849+124T>G | |
| NM_001366088.1:c.849+124T>G | NP_001353017.1:n.849+124T>G | |
| NM_001366089.1:c.963+124T>G | NP_001353018.1:n.963+124T>G | |
| XM_005250508.5:c.861+124T>G | XP_005250565.1:n.861+124T>G | |
| XM_005250509.4:c.861+124T>G | XP_005250566.1:n.861+124T>G | |
| XM_006716063.4:c.861+124T>G | XP_006716126.1:n.861+124T>G | |
| XM_011516422.3:c.861+124T>G | XP_011514724.1:n.861+124T>G | |
| XM_011516423.3:c.861+124T>G | XP_011514725.1:n.861+124T>G | |
| XM_011516424.2:c.438+124T>G | XP_011514726.1:n.438+124T>G | |
| XM_017012459.2:c.849+124T>G | XP_016867948.1:n.849+124T>G | |
| NM_001127357.2:c.861+124T>G | NP_001120829.1:n.861+124T>G | |
| NM_001127358.2:c.849+124T>G | NP_001120830.1:n.849+124T>G | |
| NM_001366082.2:c.849+124T>G | NP_001353011.1:n.849+124T>G | |
| NM_001366085.2:c.849+124T>G | NP_001353014.1:n.849+124T>G | |
| NM_001366088.2:c.849+124T>G | NP_001353017.1:n.849+124T>G | |
| NM_020432.5:c.849+124T>G | NP_065165.3:n.849+124T>G | |
| NM_001127359.2:c.861+124T>G | NP_001120831.1:n.861+124T>G | |
| NM_001127360.2:c.849+124T>G | NP_001120832.1:n.849+124T>G | |
| NM_001395270.1:c.849+124T>G | NP_001382199.1:n.849+124T>G | |
| NM_001395271.1:c.861+124T>G | NP_001382200.1:n.861+124T>G | |
| NM_001395272.1:c.861+124T>G MANE Select | NP_001382201.1:n.861+124T>G |