Linked Data
ClinVar Variation Id:
1091770
dbSNP Id:
rs199881276
ExAC:
6:56323854 C / T
gnomAD v2:
6-56323854-C-T
gnomAD v3:
6-56459056-C-T
gnomAD v4:
6-56459056-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56459056C>T , CM000668.2:g.56459056C>T | GRCh38 |
| NC_000006.11:g.56323854C>T , CM000668.1:g.56323854C>T | GRCh37 |
| NC_000006.10:g.56431813C>T | NCBI36 |
| NG_029322.1:g.188841G>A | |
| NG_029322.2:g.500573G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.16443G>A | ENSP00000400883.3:p.Thr5481= | |
| ENST00000449297.7:c.16632G>A | ENSP00000393082.3:p.Thr5544= | |
| ENST00000520645.6:c.16218G>A | ENSP00000431030.2:p.Thr5406= | |
| ENST00000340834.10:c.7980G>A | ENSP00000489032.2:p.Thr2660= | |
| ENST00000651289.1:c.1825G>A | ||
| ENST00000651457.1:n.5017G>A | ||
| ENST00000651790.1:c.3992G>A | ||
| ENST00000651941.1:n.7789G>A | ||
| ENST00000680361.1:c.23406G>A MANE Select | ENSP00000505098.1:p.Thr7802= | |
| ENST00000244364.10:c.15465G>A | ENSP00000244364.6:p.Thr5155= | |
| ENST00000312431.10:c.16563G>A | ENSP00000307959.7:p.Thr5521= | |
| ENST00000361203.7:c.22335G>A | ENSP00000354508.3:p.Thr7445= | |
| ENST00000370754.9:c.16977G>A | ENSP00000359790.6:p.Thr5659= | |
| ENST00000370788.6:c.16077G>A | ENSP00000359824.2:p.Thr5359= | |
| ENST00000421834.6:c.16443G>A | ENSP00000400883.3:p.Thr5481= | |
| ENST00000466429.5:n.1199G>A | ||
| ENST00000482156.5:n.2046G>A | ||
| ENST00000518464.5:n.2150G>A | ||
| ENST00000523292.5:c.728G>A | ||
| NM_001144769.2:c.16977G>A | NP_001138241.1:p.Thr5659= | |
| NM_001144770.1:c.16563G>A | NP_001138242.1:p.Thr5521= | |
| NM_015548.4:c.15465G>A | NP_056363.2:p.Thr5155= | |
| NM_183380.3:c.16443G>A | NP_899236.1:p.Thr5481= | |
| XM_005249310.2:c.23406G>A | XP_005249367.1:p.Thr7802= | |
| XM_005249315.2:c.23307G>A | XP_005249372.1:p.Thr7769= | |
| XM_005249316.1:c.23121G>A | XP_005249373.1:p.Thr7707= | |
| XM_005249318.1:c.22992G>A | XP_005249375.1:p.Thr7664= | |
| XM_005249319.1:c.22893G>A | XP_005249376.1:p.Thr7631= | |
| XM_005249320.3:c.22872G>A | XP_005249377.1:p.Thr7624= | |
| XM_005249322.3:c.22851G>A | XP_005249379.1:p.Thr7617= | |
| XM_005249323.2:c.22773G>A | XP_005249380.1:p.Thr7591= | |
| XM_005249324.1:c.21795G>A | XP_005249381.1:p.Thr7265= | |
| XM_011514824.1:c.23334G>A | XP_011513126.1:p.Thr7778= | |
| XM_011514825.1:c.17004G>A | XP_011513127.1:p.Thr5668= | |
| XM_011514826.1:c.22335G>A | XP_011513128.1:p.Thr7445= | |
| XM_005249310.4:c.23406G>A | XP_005249367.1:p.Thr7802= | |
| XM_005249315.3:c.23307G>A | XP_005249372.1:p.Thr7769= | |
| XM_005249316.3:c.23121G>A | XP_005249373.1:p.Thr7707= | |
| XM_005249318.2:c.22992G>A | XP_005249375.1:p.Thr7664= | |
| XM_005249319.2:c.22893G>A | XP_005249376.1:p.Thr7631= | |
| XM_005249320.4:c.22872G>A | XP_005249377.1:p.Thr7624= | |
| XM_005249322.5:c.22851G>A | XP_005249379.1:p.Thr7617= | |
| XM_005249323.4:c.22773G>A | XP_005249380.1:p.Thr7591= | |
| XM_005249324.3:c.21795G>A | XP_005249381.1:p.Thr7265= | |
| XM_011514824.2:c.23334G>A | XP_011513126.1:p.Thr7778= | |
| XM_011514825.3:c.17004G>A | XP_011513127.1:p.Thr5668= | |
| XM_011514826.3:c.22335G>A | XP_011513128.1:p.Thr7445= | |
| XM_017011205.1:c.23433G>A | XP_016866694.1:p.Thr7811= | |
| XM_017011206.1:c.23415G>A | XP_016866695.1:p.Thr7805= | |
| XM_017011207.1:c.23370G>A | XP_016866696.1:p.Thr7790= | |
| XM_017011208.1:c.23361G>A | XP_016866697.1:p.Thr7787= | |
| XM_017011209.1:c.23343G>A | XP_016866698.1:p.Thr7781= | |
| XM_017011210.1:c.23322G>A | XP_016866699.1:p.Thr7774= | |
| XM_017011211.2:c.23250G>A | XP_016866700.1:p.Thr7750= | |
| XM_017011212.1:c.23199G>A | XP_016866701.1:p.Thr7733= | |
| XM_017011213.1:c.23106G>A | XP_016866702.1:p.Thr7702= | |
| XM_017011214.2:c.23034G>A | XP_016866703.1:p.Thr7678= | |
| XM_017011215.2:c.22995G>A | XP_016866704.1:p.Thr7665= | |
| XM_017011216.2:c.22923G>A | XP_016866705.1:p.Thr7641= | |
| XM_017011217.1:c.22809G>A | XP_016866706.1:p.Thr7603= | |
| XM_017011218.1:c.18000G>A | XP_016866707.1:p.Thr6000= | |
| XM_017011219.1:c.17175G>A | XP_016866708.1:p.Thr5725= | |
| XM_017011220.1:c.17049G>A | XP_016866709.1:p.Thr5683= | |
| XM_017011221.1:c.16941G>A | XP_016866710.1:p.Thr5647= | |
| XM_017011222.2:c.16863G>A | XP_016866711.1:p.Thr5621= | |
| XM_017011223.1:c.16848G>A | XP_016866712.1:p.Thr5616= | |
| XM_017011224.2:c.16077G>A | XP_016866713.1:p.Thr5359= | |
| XM_024446530.1:c.22752G>A | XP_024302298.1:p.Thr7584= | |
| NM_001144769.5:c.16977G>A | NP_001138241.1:p.Thr5659= | |
| NM_001144770.2:c.16563G>A | NP_001138242.1:p.Thr5521= | |
| NM_001374722.1:c.23334G>A | NP_001361651.1:p.Thr7778= | |
| NM_001374729.1:c.22335G>A | NP_001361658.1:p.Thr7445= | |
| NM_001374730.1:c.16077G>A | NP_001361659.1:p.Thr5359= | |
| NM_001374734.1:c.23361G>A | NP_001361663.1:p.Thr7787= | |
| NM_001374736.1:c.23406G>A MANE Select | NP_001361665.1:p.Thr7802= | |
| NM_015548.5:c.15465G>A | NP_056363.2:p.Thr5155= | |
| NM_183380.4:c.16443G>A | NP_899236.1:p.Thr5481= | |
| NM_001386100.1:c.16425G>A | NP_001373029.1:p.Thr5475= |