Linked Data
ClinVar Variation Id:
360834
dbSNP Id:
rs775673048
ExAC:
7:91699389 A / C
gnomAD v2:
7-91699389-A-C
gnomAD v3:
7-92070075-A-C
gnomAD v4:
7-92070075-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92070075A>C , CM000669.2:g.92070075A>C | GRCh38 |
| NC_000007.13:g.91699389A>C , CM000669.1:g.91699389A>C | GRCh37 |
| NC_000007.12:g.91537325A>C | NCBI36 |
| NG_011623.1:g.134201A>C , LRG_331:g.134201A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356239.8:c.6376A>C MANE Select | ENSP00000348573.3:p.Ser2126Arg | |
| ENST00000359028.7:c.6472A>C | ENSP00000351922.4:p.Ser2158Arg | |
| ENST00000491695.2:c.1021A>C | ENSP00000494626.2:p.Ser341Arg | |
| ENST00000674381.2:c.*6105A>C | ENSP00000501536.2:n.*6105A>C | |
| ENST00000679448.1:c.6376A>C | ENSP00000505889.1:p.Ser2126Arg | |
| ENST00000679457.1:c.6376A>C | ENSP00000505450.1:p.Ser2126Arg | |
| ENST00000679474.1:n.6598A>C | ||
| ENST00000679521.1:c.6322A>C | ENSP00000505456.1:p.Ser2108Arg | |
| ENST00000679554.1:c.*6161A>C | ENSP00000506415.1:n.*6161A>C | |
| ENST00000679722.1:n.6598A>C | ||
| ENST00000679821.1:c.6118A>C | ENSP00000506040.1:p.Ser2040Arg | |
| ENST00000680047.1:n.6598A>C | ||
| ENST00000680072.1:c.6331-830A>C | ENSP00000506581.1:n.6331-830A>C | |
| ENST00000680074.1:n.9342A>C | ||
| ENST00000680181.1:c.6283A>C | ENSP00000505548.1:p.Ser2095Arg | |
| ENST00000680513.1:c.6235A>C | ENSP00000505284.1:p.Ser2079Arg | |
| ENST00000680534.1:c.6415A>C | ENSP00000506674.1:p.Ser2139Arg | |
| ENST00000680766.1:c.6376A>C | ENSP00000505204.1:p.Ser2126Arg | |
| ENST00000680952.1:c.6376A>C | ENSP00000506407.1:p.Ser2126Arg | |
| ENST00000681412.1:c.6376A>C | ENSP00000506486.1:p.Ser2126Arg | |
| ENST00000681722.1:c.6376A>C | ENSP00000506566.1:p.Ser2126Arg | |
| ENST00000356239.7:c.6376A>C | ENSP00000348573.3:p.Ser2126Arg | |
| ENST00000358100.6:c.6235A>C | ENSP00000350813.3:p.Ser2079Arg | |
| ENST00000359028.6:c.6409A>C | ENSP00000351922.3:p.Ser2137Arg | |
| NM_005751.4:c.6376A>C , LRG_331t1:c.6376A>C | NP_005742.4:p.Ser2126Arg | |
| NM_147185.2:c.6376A>C | NP_671714.1:p.Ser2126Arg | |
| XM_006715827.1:c.6235A>C | XP_006715890.1:p.Ser2079Arg | |
| XM_011515709.1:c.6547A>C | XP_011514011.1:p.Ser2183Arg | |
| XM_011515710.1:c.6547A>C | XP_011514012.1:p.Ser2183Arg | |
| XM_011515711.1:c.6511A>C | XP_011514013.1:p.Ser2171Arg | |
| XM_011515712.1:c.6508A>C | XP_011514014.1:p.Ser2170Arg | |
| XM_011515713.1:c.6493A>C | XP_011514015.1:p.Ser2165Arg | |
| XM_011515714.1:c.6508A>C | XP_011514016.1:p.Ser2170Arg | |
| XM_011515716.1:c.6451A>C | XP_011514018.1:p.Ser2151Arg | |
| XM_011515717.1:c.6406A>C | XP_011514019.1:p.Ser2136Arg | |
| XM_011515718.1:c.6412A>C | XP_011514020.1:p.Ser2138Arg | |
| XM_011515719.1:c.6412A>C | XP_011514021.1:p.Ser2138Arg | |
| XM_011515720.1:c.6271A>C | XP_011514022.1:p.Ser2091Arg | |
| XM_011515721.1:c.1060A>C | XP_011514023.1:p.Ser354Arg | |
| XM_011515722.1:c.1021A>C | XP_011514024.1:p.Ser341Arg | |
| XM_017011642.2:c.6511A>C | XP_016867131.1:p.Ser2171Arg | |
| XM_017011643.2:c.6472A>C | XP_016867132.1:p.Ser2158Arg | |
| XM_017011644.2:c.6511A>C | XP_016867133.1:p.Ser2171Arg | |
| XM_017011645.2:c.6457A>C | XP_016867134.1:p.Ser2153Arg | |
| XM_017011646.2:c.6472A>C | XP_016867135.1:p.Ser2158Arg | |
| XM_017011647.2:c.6418A>C | XP_016867136.1:p.Ser2140Arg | |
| XM_017011648.2:c.6415A>C | XP_016867137.1:p.Ser2139Arg | |
| XM_017011649.2:c.6472A>C | XP_016867138.1:p.Ser2158Arg | |
| XM_017011650.2:c.6376A>C | XP_016867139.1:p.Ser2126Arg | |
| XM_017011651.2:c.6370A>C | XP_016867140.1:p.Ser2124Arg | |
| XM_017011652.2:c.6511A>C | XP_016867141.1:p.Ser2171Arg | |
| XM_017011653.2:c.6283A>C | XP_016867142.1:p.Ser2095Arg | |
| XM_017011654.2:c.6235A>C | XP_016867143.1:p.Ser2079Arg | |
| XM_017011655.2:c.6139A>C | XP_016867144.1:p.Ser2047Arg | |
| XM_017011656.2:c.6139A>C | XP_016867145.1:p.Ser2047Arg | |
| XM_017011657.2:c.2176A>C | XP_016867146.1:p.Ser726Arg | |
| XM_017011658.2:c.1060A>C | XP_016867147.1:p.Ser354Arg | |
| XM_017011659.2:c.1021A>C | XP_016867148.1:p.Ser341Arg | |
| XM_017011660.2:c.1021A>C | XP_016867149.1:p.Ser341Arg | |
| XM_024446631.1:c.6274A>C | XP_024302399.1:p.Ser2092Arg | |
| NM_147185.3:c.6376A>C | NP_671714.1:p.Ser2126Arg | |
| NM_001379277.1:c.1021A>C | NP_001366206.1:p.Ser341Arg | |
| NM_005751.5:c.6376A>C MANE Select | NP_005742.4:p.Ser2126Arg |