Linked Data
ClinVar Variation Id:
360839
dbSNP Id:
rs554984079
ExAC:
7:91712478 T / A
gnomAD v2:
7-91712478-T-A
gnomAD v3:
7-92083164-T-A
gnomAD v4:
7-92083164-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92083164T>A , CM000669.2:g.92083164T>A | GRCh38 |
| NC_000007.13:g.91712478T>A , CM000669.1:g.91712478T>A | GRCh37 |
| NC_000007.12:g.91550414T>A | NCBI36 |
| NG_011623.1:g.147290T>A , LRG_331:g.147290T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.8161-6T>A MANE Select | ENSP00000348573.3:n.8161-6T>A | |
| ENST00000359028.7:c.8233-6T>A | ENSP00000351922.4:n.8233-6T>A | |
| ENST00000394534.7:c.1654-6T>A | ENSP00000378042.3:n.1654-6T>A | |
| ENST00000491695.2:c.2806-6T>A | ENSP00000494626.2:n.2806-6T>A | |
| ENST00000674381.2:c.*7890-6T>A | ENSP00000501536.2:n.*7890-6T>A | |
| ENST00000679448.1:c.8137-6T>A | ENSP00000505889.1:n.8137-6T>A | |
| ENST00000679457.1:c.8137-6T>A | ENSP00000505450.1:n.8137-6T>A | |
| ENST00000679474.1:n.8359-6T>A | ||
| ENST00000679521.1:c.8107-6T>A | ENSP00000505456.1:n.8107-6T>A | |
| ENST00000679554.1:c.*7946-6T>A | ENSP00000506415.1:n.*7946-6T>A | |
| ENST00000679722.1:n.8383-6T>A | ||
| ENST00000679821.1:c.7903-6T>A | ENSP00000506040.1:n.7903-6T>A | |
| ENST00000680047.1:n.8359-6T>A | ||
| ENST00000680072.1:c.7984-6T>A | ENSP00000506581.1:n.7984-6T>A | |
| ENST00000680181.1:c.8068-6T>A | ENSP00000505548.1:n.8068-6T>A | |
| ENST00000680365.1:c.1654-6T>A | ENSP00000506019.1:n.1654-6T>A | |
| ENST00000680513.1:c.8020-6T>A | ENSP00000505284.1:n.8020-6T>A | |
| ENST00000680534.1:c.8200-6T>A | ENSP00000506674.1:n.8200-6T>A | |
| ENST00000680766.1:c.8137-6T>A | ENSP00000505204.1:n.8137-6T>A | |
| ENST00000680952.1:c.8137-6T>A | ENSP00000506407.1:n.8137-6T>A | |
| ENST00000681216.1:c.1654-6T>A | ENSP00000505551.1:n.1654-6T>A | |
| ENST00000681412.1:c.8161-6T>A | ENSP00000506486.1:n.8161-6T>A | |
| ENST00000681722.1:c.8137-6T>A | ENSP00000506566.1:n.8137-6T>A | |
| ENST00000356239.7:c.8161-6T>A | ENSP00000348573.3:n.8161-6T>A | |
| ENST00000358100.6:c.8020-6T>A | ENSP00000350813.3:n.8020-6T>A | |
| ENST00000359028.6:c.8194-6T>A | ENSP00000351922.3:n.8194-6T>A | |
| ENST00000394534.6:c.1699-6T>A | ENSP00000378042.2:n.1699-6T>A | |
| NM_005751.4:c.8161-6T>A , LRG_331t1:c.8161-6T>A | NP_005742.4:n.8161-6T>A | |
| NM_147185.2:c.8137-6T>A | NP_671714.1:n.8137-6T>A | |
| XM_006715827.1:c.8020-6T>A | XP_006715890.1:n.8020-6T>A | |
| XM_011515709.1:c.8308-6T>A | XP_011514011.1:n.8308-6T>A | |
| XM_011515710.1:c.8332-6T>A | XP_011514012.1:n.8332-6T>A | |
| XM_011515711.1:c.8272-6T>A | XP_011514013.1:n.8272-6T>A | |
| XM_011515712.1:c.8269-6T>A | XP_011514014.1:n.8269-6T>A | |
| XM_011515713.1:c.8254-6T>A | XP_011514015.1:n.8254-6T>A | |
| XM_011515714.1:c.8293-6T>A | XP_011514016.1:n.8293-6T>A | |
| XM_011515716.1:c.8212-6T>A | XP_011514018.1:n.8212-6T>A | |
| XM_011515717.1:c.8167-6T>A | XP_011514019.1:n.8167-6T>A | |
| XM_011515718.1:c.8197-6T>A | XP_011514020.1:n.8197-6T>A | |
| XM_011515719.1:c.8173-6T>A | XP_011514021.1:n.8173-6T>A | |
| XM_011515720.1:c.8056-6T>A | XP_011514022.1:n.8056-6T>A | |
| XM_011515721.1:c.2821-6T>A | XP_011514023.1:n.2821-6T>A | |
| XM_011515722.1:c.2782-6T>A | XP_011514024.1:n.2782-6T>A | |
| XM_017011642.2:c.8296-6T>A | XP_016867131.1:n.8296-6T>A | |
| XM_017011643.2:c.8257-6T>A | XP_016867132.1:n.8257-6T>A | |
| XM_017011644.2:c.8296-6T>A | XP_016867133.1:n.8296-6T>A | |
| XM_017011645.2:c.8242-6T>A | XP_016867134.1:n.8242-6T>A | |
| XM_017011646.2:c.8257-6T>A | XP_016867135.1:n.8257-6T>A | |
| XM_017011647.2:c.8203-6T>A | XP_016867136.1:n.8203-6T>A | |
| XM_017011648.2:c.8200-6T>A | XP_016867137.1:n.8200-6T>A | |
| XM_017011649.2:c.8233-6T>A | XP_016867138.1:n.8233-6T>A | |
| XM_017011650.2:c.8161-6T>A | XP_016867139.1:n.8161-6T>A | |
| XM_017011651.2:c.8155-6T>A | XP_016867140.1:n.8155-6T>A | |
| XM_017011652.2:c.8296-6T>A | XP_016867141.1:n.8296-6T>A | |
| XM_017011653.2:c.8068-6T>A | XP_016867142.1:n.8068-6T>A | |
| XM_017011654.2:c.8020-6T>A | XP_016867143.1:n.8020-6T>A | |
| XM_017011655.2:c.7924-6T>A | XP_016867144.1:n.7924-6T>A | |
| XM_017011656.2:c.7924-6T>A | XP_016867145.1:n.7924-6T>A | |
| XM_017011657.2:c.3961-6T>A | XP_016867146.1:n.3961-6T>A | |
| XM_017011658.2:c.2845-6T>A | XP_016867147.1:n.2845-6T>A | |
| XM_017011659.2:c.2806-6T>A | XP_016867148.1:n.2806-6T>A | |
| XM_017011660.2:c.2806-6T>A | XP_016867149.1:n.2806-6T>A | |
| XM_024446631.1:c.8059-6T>A | XP_024302399.1:n.8059-6T>A | |
| NM_147185.3:c.8137-6T>A | NP_671714.1:n.8137-6T>A | |
| NM_001379277.1:c.2806-6T>A | NP_001366206.1:n.2806-6T>A | |
| NM_005751.5:c.8161-6T>A MANE Select | NP_005742.4:n.8161-6T>A |