Linked Data
ClinVar Variation Id:
360837
dbSNP Id:
rs375657019
ExAC:
7:91708381 A / G
gnomAD v2:
7-91708381-A-G
gnomAD v3:
7-92079067-A-G
gnomAD v4:
7-92079067-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92079067A>G , CM000669.2:g.92079067A>G | GRCh38 |
| NC_000007.13:g.91708381A>G , CM000669.1:g.91708381A>G | GRCh37 |
| NC_000007.12:g.91546317A>G | NCBI36 |
| NG_011623.1:g.143193A>G , LRG_331:g.143193A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.6946-12A>G MANE Select | ENSP00000348573.3:n.6946-12A>G | |
| ENST00000359028.7:c.7018-12A>G | ENSP00000351922.4:n.7018-12A>G | |
| ENST00000394534.7:c.439-12A>G | ENSP00000378042.3:n.439-12A>G | |
| ENST00000491695.2:c.1591-12A>G | ENSP00000494626.2:n.1591-12A>G | |
| ENST00000674381.2:c.*6675-12A>G | ENSP00000501536.2:n.*6675-12A>G | |
| ENST00000679448.1:c.6922-12A>G | ENSP00000505889.1:n.6922-12A>G | |
| ENST00000679457.1:c.6922-12A>G | ENSP00000505450.1:n.6922-12A>G | |
| ENST00000679474.1:n.7144-12A>G | ||
| ENST00000679521.1:c.6892-12A>G | ENSP00000505456.1:n.6892-12A>G | |
| ENST00000679554.1:c.*6731-12A>G | ENSP00000506415.1:n.*6731-12A>G | |
| ENST00000679722.1:n.7168-12A>G | ||
| ENST00000679821.1:c.6688-12A>G | ENSP00000506040.1:n.6688-12A>G | |
| ENST00000680047.1:n.7144-12A>G | ||
| ENST00000680072.1:c.6769-12A>G | ENSP00000506581.1:n.6769-12A>G | |
| ENST00000680181.1:c.6853-12A>G | ENSP00000505548.1:n.6853-12A>G | |
| ENST00000680365.1:c.439-12A>G | ENSP00000506019.1:n.439-12A>G | |
| ENST00000680513.1:c.6805-12A>G | ENSP00000505284.1:n.6805-12A>G | |
| ENST00000680534.1:c.6985-12A>G | ENSP00000506674.1:n.6985-12A>G | |
| ENST00000680766.1:c.6922-12A>G | ENSP00000505204.1:n.6922-12A>G | |
| ENST00000680952.1:c.6922-12A>G | ENSP00000506407.1:n.6922-12A>G | |
| ENST00000681216.1:c.439-12A>G | ENSP00000505551.1:n.439-12A>G | |
| ENST00000681412.1:c.6946-12A>G | ENSP00000506486.1:n.6946-12A>G | |
| ENST00000681722.1:c.6922-12A>G | ENSP00000506566.1:n.6922-12A>G | |
| ENST00000356239.7:c.6946-12A>G | ENSP00000348573.3:n.6946-12A>G | |
| ENST00000358100.6:c.6805-12A>G | ENSP00000350813.3:n.6805-12A>G | |
| ENST00000359028.6:c.6979-12A>G | ENSP00000351922.3:n.6979-12A>G | |
| ENST00000394534.6:c.484-12A>G | ENSP00000378042.2:n.484-12A>G | |
| NM_005751.4:c.6946-12A>G , LRG_331t1:c.6946-12A>G | NP_005742.4:n.6946-12A>G | |
| NM_147185.2:c.6922-12A>G | NP_671714.1:n.6922-12A>G | |
| XM_006715827.1:c.6805-12A>G | XP_006715890.1:n.6805-12A>G | |
| XM_011515709.1:c.7093-12A>G | XP_011514011.1:n.7093-12A>G | |
| XM_011515710.1:c.7117-12A>G | XP_011514012.1:n.7117-12A>G | |
| XM_011515711.1:c.7057-12A>G | XP_011514013.1:n.7057-12A>G | |
| XM_011515712.1:c.7054-12A>G | XP_011514014.1:n.7054-12A>G | |
| XM_011515713.1:c.7039-12A>G | XP_011514015.1:n.7039-12A>G | |
| XM_011515714.1:c.7078-12A>G | XP_011514016.1:n.7078-12A>G | |
| XM_011515716.1:c.6997-12A>G | XP_011514018.1:n.6997-12A>G | |
| XM_011515717.1:c.6952-12A>G | XP_011514019.1:n.6952-12A>G | |
| XM_011515718.1:c.6982-12A>G | XP_011514020.1:n.6982-12A>G | |
| XM_011515719.1:c.6958-12A>G | XP_011514021.1:n.6958-12A>G | |
| XM_011515720.1:c.6841-12A>G | XP_011514022.1:n.6841-12A>G | |
| XM_011515721.1:c.1606-12A>G | XP_011514023.1:n.1606-12A>G | |
| XM_011515722.1:c.1567-12A>G | XP_011514024.1:n.1567-12A>G | |
| XM_017011642.2:c.7081-12A>G | XP_016867131.1:n.7081-12A>G | |
| XM_017011643.2:c.7042-12A>G | XP_016867132.1:n.7042-12A>G | |
| XM_017011644.2:c.7081-12A>G | XP_016867133.1:n.7081-12A>G | |
| XM_017011645.2:c.7027-12A>G | XP_016867134.1:n.7027-12A>G | |
| XM_017011646.2:c.7042-12A>G | XP_016867135.1:n.7042-12A>G | |
| XM_017011647.2:c.6988-12A>G | XP_016867136.1:n.6988-12A>G | |
| XM_017011648.2:c.6985-12A>G | XP_016867137.1:n.6985-12A>G | |
| XM_017011649.2:c.7018-12A>G | XP_016867138.1:n.7018-12A>G | |
| XM_017011650.2:c.6946-12A>G | XP_016867139.1:n.6946-12A>G | |
| XM_017011651.2:c.6940-12A>G | XP_016867140.1:n.6940-12A>G | |
| XM_017011652.2:c.7081-12A>G | XP_016867141.1:n.7081-12A>G | |
| XM_017011653.2:c.6853-12A>G | XP_016867142.1:n.6853-12A>G | |
| XM_017011654.2:c.6805-12A>G | XP_016867143.1:n.6805-12A>G | |
| XM_017011655.2:c.6709-12A>G | XP_016867144.1:n.6709-12A>G | |
| XM_017011656.2:c.6709-12A>G | XP_016867145.1:n.6709-12A>G | |
| XM_017011657.2:c.2746-12A>G | XP_016867146.1:n.2746-12A>G | |
| XM_017011658.2:c.1630-12A>G | XP_016867147.1:n.1630-12A>G | |
| XM_017011659.2:c.1591-12A>G | XP_016867148.1:n.1591-12A>G | |
| XM_017011660.2:c.1591-12A>G | XP_016867149.1:n.1591-12A>G | |
| XM_024446631.1:c.6844-12A>G | XP_024302399.1:n.6844-12A>G | |
| NM_147185.3:c.6922-12A>G | NP_671714.1:n.6922-12A>G | |
| NM_001379277.1:c.1591-12A>G | NP_001366206.1:n.1591-12A>G | |
| NM_005751.5:c.6946-12A>G MANE Select | NP_005742.4:n.6946-12A>G |