Linked Data
ClinVar Variation Id:
191392
dbSNP Id:
rs553800160
ExAC:
7:91709220 A / C
gnomAD v2:
7-91709220-A-C
gnomAD v3:
7-92079906-A-C
gnomAD v4:
7-92079906-A-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92079906A>C , CM000669.2:g.92079906A>C | GRCh38 |
| NC_000007.13:g.91709220A>C , CM000669.1:g.91709220A>C | GRCh37 |
| NC_000007.12:g.91547156A>C | NCBI36 |
| NG_011623.1:g.144032A>C , LRG_331:g.144032A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.7773A>C MANE Select | ENSP00000348573.3:p.Gln2591His | |
| ENST00000359028.7:c.7845A>C | ENSP00000351922.4:p.Gln2615His | |
| ENST00000394534.7:c.1266A>C | ENSP00000378042.3:p.Gln422His | |
| ENST00000491695.2:c.2418A>C | ENSP00000494626.2:p.Gln806His | |
| ENST00000674381.2:c.*7502A>C | ENSP00000501536.2:n.*7502A>C | |
| ENST00000679448.1:c.7749A>C | ENSP00000505889.1:p.Gln2583His | |
| ENST00000679457.1:c.7749A>C | ENSP00000505450.1:p.Gln2583His | |
| ENST00000679474.1:n.7971A>C | ||
| ENST00000679521.1:c.7719A>C | ENSP00000505456.1:p.Gln2573His | |
| ENST00000679554.1:c.*7558A>C | ENSP00000506415.1:n.*7558A>C | |
| ENST00000679722.1:n.7995A>C | ||
| ENST00000679821.1:c.7515A>C | ENSP00000506040.1:p.Gln2505His | |
| ENST00000680047.1:n.7971A>C | ||
| ENST00000680072.1:c.7596A>C | ENSP00000506581.1:p.Gln2532His | |
| ENST00000680181.1:c.7680A>C | ENSP00000505548.1:p.Gln2560His | |
| ENST00000680365.1:c.1266A>C | ENSP00000506019.1:p.Gln422His | |
| ENST00000680513.1:c.7632A>C | ENSP00000505284.1:p.Gln2544His | |
| ENST00000680534.1:c.7812A>C | ENSP00000506674.1:p.Gln2604His | |
| ENST00000680766.1:c.7749A>C | ENSP00000505204.1:p.Gln2583His | |
| ENST00000680952.1:c.7749A>C | ENSP00000506407.1:p.Gln2583His | |
| ENST00000681216.1:c.1266A>C | ENSP00000505551.1:p.Gln422His | |
| ENST00000681412.1:c.7773A>C | ENSP00000506486.1:p.Gln2591His | |
| ENST00000681722.1:c.7749A>C | ENSP00000506566.1:p.Gln2583His | |
| ENST00000356239.7:c.7773A>C | ENSP00000348573.3:p.Gln2591His | |
| ENST00000358100.6:c.7632A>C | ENSP00000350813.3:p.Gln2544His | |
| ENST00000359028.6:c.7806A>C | ENSP00000351922.3:p.Gln2602His | |
| ENST00000394534.6:c.1311A>C | ENSP00000378042.2:p.Gln437His | |
| NM_005751.4:c.7773A>C , LRG_331t1:c.7773A>C | NP_005742.4:p.Gln2591His | |
| NM_147185.2:c.7749A>C | NP_671714.1:p.Gln2583His | |
| XM_006715827.1:c.7632A>C | XP_006715890.1:p.Gln2544His | |
| XM_011515709.1:c.7920A>C | XP_011514011.1:p.Gln2640His | |
| XM_011515710.1:c.7944A>C | XP_011514012.1:p.Gln2648His | |
| XM_011515711.1:c.7884A>C | XP_011514013.1:p.Gln2628His | |
| XM_011515712.1:c.7881A>C | XP_011514014.1:p.Gln2627His | |
| XM_011515713.1:c.7866A>C | XP_011514015.1:p.Gln2622His | |
| XM_011515714.1:c.7905A>C | XP_011514016.1:p.Gln2635His | |
| XM_011515716.1:c.7824A>C | XP_011514018.1:p.Gln2608His | |
| XM_011515717.1:c.7779A>C | XP_011514019.1:p.Gln2593His | |
| XM_011515718.1:c.7809A>C | XP_011514020.1:p.Gln2603His | |
| XM_011515719.1:c.7785A>C | XP_011514021.1:p.Gln2595His | |
| XM_011515720.1:c.7668A>C | XP_011514022.1:p.Gln2556His | |
| XM_011515721.1:c.2433A>C | XP_011514023.1:p.Gln811His | |
| XM_011515722.1:c.2394A>C | XP_011514024.1:p.Gln798His | |
| XM_017011642.2:c.7908A>C | XP_016867131.1:p.Gln2636His | |
| XM_017011643.2:c.7869A>C | XP_016867132.1:p.Gln2623His | |
| XM_017011644.2:c.7908A>C | XP_016867133.1:p.Gln2636His | |
| XM_017011645.2:c.7854A>C | XP_016867134.1:p.Gln2618His | |
| XM_017011646.2:c.7869A>C | XP_016867135.1:p.Gln2623His | |
| XM_017011647.2:c.7815A>C | XP_016867136.1:p.Gln2605His | |
| XM_017011648.2:c.7812A>C | XP_016867137.1:p.Gln2604His | |
| XM_017011649.2:c.7845A>C | XP_016867138.1:p.Gln2615His | |
| XM_017011650.2:c.7773A>C | XP_016867139.1:p.Gln2591His | |
| XM_017011651.2:c.7767A>C | XP_016867140.1:p.Gln2589His | |
| XM_017011652.2:c.7908A>C | XP_016867141.1:p.Gln2636His | |
| XM_017011653.2:c.7680A>C | XP_016867142.1:p.Gln2560His | |
| XM_017011654.2:c.7632A>C | XP_016867143.1:p.Gln2544His | |
| XM_017011655.2:c.7536A>C | XP_016867144.1:p.Gln2512His | |
| XM_017011656.2:c.7536A>C | XP_016867145.1:p.Gln2512His | |
| XM_017011657.2:c.3573A>C | XP_016867146.1:p.Gln1191His | |
| XM_017011658.2:c.2457A>C | XP_016867147.1:p.Gln819His | |
| XM_017011659.2:c.2418A>C | XP_016867148.1:p.Gln806His | |
| XM_017011660.2:c.2418A>C | XP_016867149.1:p.Gln806His | |
| XM_024446631.1:c.7671A>C | XP_024302399.1:p.Gln2557His | |
| NM_147185.3:c.7749A>C | NP_671714.1:p.Gln2583His | |
| NM_001379277.1:c.2418A>C | NP_001366206.1:p.Gln806His | |
| NM_005751.5:c.7773A>C MANE Select | NP_005742.4:p.Gln2591His |