Linked Data
ClinVar Variation Id:
1168837
ClinVar RCV Id:
RCV001519394
dbSNP Id:
rs188264356
ExAC:
7:91707162 G / A
gnomAD v2:
7-91707162-G-A
gnomAD v3:
7-92077848-G-A
gnomAD v4:
7-92077848-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92077848G>A , CM000669.2:g.92077848G>A | GRCh38 |
| NC_000007.13:g.91707162G>A , CM000669.1:g.91707162G>A | GRCh37 |
| NC_000007.12:g.91545098G>A | NCBI36 |
| NG_011623.1:g.141974G>A , LRG_331:g.141974G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.6918G>A MANE Select | ENSP00000348573.3:p.Gln2306= | |
| ENST00000359028.7:c.6990G>A | ENSP00000351922.4:p.Gln2330= | |
| ENST00000394534.7:c.411G>A | ENSP00000378042.3:p.Gln137= | |
| ENST00000491695.2:c.1563G>A | ENSP00000494626.2:p.Gln521= | |
| ENST00000674381.2:c.*6647G>A | ENSP00000501536.2:n.*6647G>A | |
| ENST00000679448.1:c.6894G>A | ENSP00000505889.1:p.Gln2298= | |
| ENST00000679457.1:c.6894G>A | ENSP00000505450.1:p.Gln2298= | |
| ENST00000679474.1:n.7116G>A | ||
| ENST00000679521.1:c.6864G>A | ENSP00000505456.1:p.Gln2288= | |
| ENST00000679554.1:c.*6703G>A | ENSP00000506415.1:n.*6703G>A | |
| ENST00000679722.1:n.7140G>A | ||
| ENST00000679821.1:c.6660G>A | ENSP00000506040.1:p.Gln2220= | |
| ENST00000680047.1:n.7116G>A | ||
| ENST00000680072.1:c.6741G>A | ENSP00000506581.1:p.Gln2247= | |
| ENST00000680181.1:c.6825G>A | ENSP00000505548.1:p.Gln2275= | |
| ENST00000680365.1:c.411G>A | ENSP00000506019.1:p.Gln137= | |
| ENST00000680513.1:c.6777G>A | ENSP00000505284.1:p.Gln2259= | |
| ENST00000680534.1:c.6957G>A | ENSP00000506674.1:p.Gln2319= | |
| ENST00000680766.1:c.6894G>A | ENSP00000505204.1:p.Gln2298= | |
| ENST00000680952.1:c.6894G>A | ENSP00000506407.1:p.Gln2298= | |
| ENST00000681216.1:c.411G>A | ENSP00000505551.1:p.Gln137= | |
| ENST00000681412.1:c.6918G>A | ENSP00000506486.1:p.Gln2306= | |
| ENST00000681722.1:c.6894G>A | ENSP00000506566.1:p.Gln2298= | |
| ENST00000356239.7:c.6918G>A | ENSP00000348573.3:p.Gln2306= | |
| ENST00000358100.6:c.6777G>A | ENSP00000350813.3:p.Gln2259= | |
| ENST00000359028.6:c.6951G>A | ENSP00000351922.3:p.Gln2317= | |
| ENST00000394534.6:c.456G>A | ENSP00000378042.2:p.Gln152= | |
| NM_005751.4:c.6918G>A , LRG_331t1:c.6918G>A | NP_005742.4:p.Gln2306= | |
| NM_147185.2:c.6894G>A | NP_671714.1:p.Gln2298= | |
| XM_006715827.1:c.6777G>A | XP_006715890.1:p.Gln2259= | |
| XM_011515709.1:c.7065G>A | XP_011514011.1:p.Gln2355= | |
| XM_011515710.1:c.7089G>A | XP_011514012.1:p.Gln2363= | |
| XM_011515711.1:c.7029G>A | XP_011514013.1:p.Gln2343= | |
| XM_011515712.1:c.7026G>A | XP_011514014.1:p.Gln2342= | |
| XM_011515713.1:c.7011G>A | XP_011514015.1:p.Gln2337= | |
| XM_011515714.1:c.7050G>A | XP_011514016.1:p.Gln2350= | |
| XM_011515716.1:c.6969G>A | XP_011514018.1:p.Gln2323= | |
| XM_011515717.1:c.6924G>A | XP_011514019.1:p.Gln2308= | |
| XM_011515718.1:c.6954G>A | XP_011514020.1:p.Gln2318= | |
| XM_011515719.1:c.6930G>A | XP_011514021.1:p.Gln2310= | |
| XM_011515720.1:c.6813G>A | XP_011514022.1:p.Gln2271= | |
| XM_011515721.1:c.1578G>A | XP_011514023.1:p.Gln526= | |
| XM_011515722.1:c.1539G>A | XP_011514024.1:p.Gln513= | |
| XM_017011642.2:c.7053G>A | XP_016867131.1:p.Gln2351= | |
| XM_017011643.2:c.7014G>A | XP_016867132.1:p.Gln2338= | |
| XM_017011644.2:c.7053G>A | XP_016867133.1:p.Gln2351= | |
| XM_017011645.2:c.6999G>A | XP_016867134.1:p.Gln2333= | |
| XM_017011646.2:c.7014G>A | XP_016867135.1:p.Gln2338= | |
| XM_017011647.2:c.6960G>A | XP_016867136.1:p.Gln2320= | |
| XM_017011648.2:c.6957G>A | XP_016867137.1:p.Gln2319= | |
| XM_017011649.2:c.6990G>A | XP_016867138.1:p.Gln2330= | |
| XM_017011650.2:c.6918G>A | XP_016867139.1:p.Gln2306= | |
| XM_017011651.2:c.6912G>A | XP_016867140.1:p.Gln2304= | |
| XM_017011652.2:c.7053G>A | XP_016867141.1:p.Gln2351= | |
| XM_017011653.2:c.6825G>A | XP_016867142.1:p.Gln2275= | |
| XM_017011654.2:c.6777G>A | XP_016867143.1:p.Gln2259= | |
| XM_017011655.2:c.6681G>A | XP_016867144.1:p.Gln2227= | |
| XM_017011656.2:c.6681G>A | XP_016867145.1:p.Gln2227= | |
| XM_017011657.2:c.2718G>A | XP_016867146.1:p.Gln906= | |
| XM_017011658.2:c.1602G>A | XP_016867147.1:p.Gln534= | |
| XM_017011659.2:c.1563G>A | XP_016867148.1:p.Gln521= | |
| XM_017011660.2:c.1563G>A | XP_016867149.1:p.Gln521= | |
| XM_024446631.1:c.6816G>A | XP_024302399.1:p.Gln2272= | |
| NM_147185.3:c.6894G>A | NP_671714.1:p.Gln2298= | |
| NM_001379277.1:c.1563G>A | NP_001366206.1:p.Gln521= | |
| NM_005751.5:c.6918G>A MANE Select | NP_005742.4:p.Gln2306= |