Linked Data
ClinVar Variation Id:
971778
ClinVar RCV Id:
RCV001247638
dbSNP Id:
rs956139209
gnomAD v2:
6-56323823-C-T
gnomAD v3:
6-56459025-C-T
gnomAD v4:
6-56459025-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56459025C>T , CM000668.2:g.56459025C>T | GRCh38 |
| NC_000006.11:g.56323823C>T , CM000668.1:g.56323823C>T | GRCh37 |
| NC_000006.10:g.56431782C>T | NCBI36 |
| NG_029322.1:g.188872G>A | |
| NG_029322.2:g.500604G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.16474G>A | ENSP00000400883.3:p.Asp5492Asn | |
| ENST00000449297.7:c.16663G>A | ENSP00000393082.3:p.Asp5555Asn | |
| ENST00000520645.6:c.16249G>A | ENSP00000431030.2:p.Asp5417Asn | |
| ENST00000340834.10:c.8011G>A | ENSP00000489032.2:p.Asp2671Asn | |
| ENST00000651289.1:c.1856G>A | ||
| ENST00000651457.1:n.5048G>A | ||
| ENST00000651790.1:c.4023G>A | ||
| ENST00000651941.1:n.7820G>A | ||
| ENST00000680361.1:c.23437G>A MANE Select | ENSP00000505098.1:p.Asp7813Asn | |
| ENST00000244364.10:c.15496G>A | ENSP00000244364.6:p.Asp5166Asn | |
| ENST00000312431.10:c.16594G>A | ENSP00000307959.7:p.Asp5532Asn | |
| ENST00000361203.7:c.22366G>A | ENSP00000354508.3:p.Asp7456Asn | |
| ENST00000370754.9:c.17008G>A | ENSP00000359790.6:p.Asp5670Asn | |
| ENST00000370788.6:c.16108G>A | ENSP00000359824.2:p.Asp5370Asn | |
| ENST00000421834.6:c.16474G>A | ENSP00000400883.3:p.Asp5492Asn | |
| ENST00000466429.5:n.1230G>A | ||
| ENST00000482156.5:n.2077G>A | ||
| ENST00000518464.5:n.2181G>A | ||
| ENST00000523292.5:c.759G>A | ||
| NM_001144769.2:c.17008G>A | NP_001138241.1:p.Asp5670Asn | |
| NM_001144770.1:c.16594G>A | NP_001138242.1:p.Asp5532Asn | |
| NM_015548.4:c.15496G>A | NP_056363.2:p.Asp5166Asn | |
| NM_183380.3:c.16474G>A | NP_899236.1:p.Asp5492Asn | |
| XM_005249310.2:c.23437G>A | XP_005249367.1:p.Asp7813Asn | |
| XM_005249315.2:c.23338G>A | XP_005249372.1:p.Asp7780Asn | |
| XM_005249316.1:c.23152G>A | XP_005249373.1:p.Asp7718Asn | |
| XM_005249318.1:c.23023G>A | XP_005249375.1:p.Asp7675Asn | |
| XM_005249319.1:c.22924G>A | XP_005249376.1:p.Asp7642Asn | |
| XM_005249320.3:c.22903G>A | XP_005249377.1:p.Asp7635Asn | |
| XM_005249322.3:c.22882G>A | XP_005249379.1:p.Asp7628Asn | |
| XM_005249323.2:c.22804G>A | XP_005249380.1:p.Asp7602Asn | |
| XM_005249324.1:c.21826G>A | XP_005249381.1:p.Asp7276Asn | |
| XM_011514824.1:c.23365G>A | XP_011513126.1:p.Asp7789Asn | |
| XM_011514825.1:c.17035G>A | XP_011513127.1:p.Asp5679Asn | |
| XM_011514826.1:c.22366G>A | XP_011513128.1:p.Asp7456Asn | |
| XM_005249310.4:c.23437G>A | XP_005249367.1:p.Asp7813Asn | |
| XM_005249315.3:c.23338G>A | XP_005249372.1:p.Asp7780Asn | |
| XM_005249316.3:c.23152G>A | XP_005249373.1:p.Asp7718Asn | |
| XM_005249318.2:c.23023G>A | XP_005249375.1:p.Asp7675Asn | |
| XM_005249319.2:c.22924G>A | XP_005249376.1:p.Asp7642Asn | |
| XM_005249320.4:c.22903G>A | XP_005249377.1:p.Asp7635Asn | |
| XM_005249322.5:c.22882G>A | XP_005249379.1:p.Asp7628Asn | |
| XM_005249323.4:c.22804G>A | XP_005249380.1:p.Asp7602Asn | |
| XM_005249324.3:c.21826G>A | XP_005249381.1:p.Asp7276Asn | |
| XM_011514824.2:c.23365G>A | XP_011513126.1:p.Asp7789Asn | |
| XM_011514825.3:c.17035G>A | XP_011513127.1:p.Asp5679Asn | |
| XM_011514826.3:c.22366G>A | XP_011513128.1:p.Asp7456Asn | |
| XM_017011205.1:c.23464G>A | XP_016866694.1:p.Asp7822Asn | |
| XM_017011206.1:c.23446G>A | XP_016866695.1:p.Asp7816Asn | |
| XM_017011207.1:c.23401G>A | XP_016866696.1:p.Asp7801Asn | |
| XM_017011208.1:c.23392G>A | XP_016866697.1:p.Asp7798Asn | |
| XM_017011209.1:c.23374G>A | XP_016866698.1:p.Asp7792Asn | |
| XM_017011210.1:c.23353G>A | XP_016866699.1:p.Asp7785Asn | |
| XM_017011211.2:c.23281G>A | XP_016866700.1:p.Asp7761Asn | |
| XM_017011212.1:c.23230G>A | XP_016866701.1:p.Asp7744Asn | |
| XM_017011213.1:c.23137G>A | XP_016866702.1:p.Asp7713Asn | |
| XM_017011214.2:c.23065G>A | XP_016866703.1:p.Asp7689Asn | |
| XM_017011215.2:c.23026G>A | XP_016866704.1:p.Asp7676Asn | |
| XM_017011216.2:c.22954G>A | XP_016866705.1:p.Asp7652Asn | |
| XM_017011217.1:c.22840G>A | XP_016866706.1:p.Asp7614Asn | |
| XM_017011218.1:c.18031G>A | XP_016866707.1:p.Asp6011Asn | |
| XM_017011219.1:c.17206G>A | XP_016866708.1:p.Asp5736Asn | |
| XM_017011220.1:c.17080G>A | XP_016866709.1:p.Asp5694Asn | |
| XM_017011221.1:c.16972G>A | XP_016866710.1:p.Asp5658Asn | |
| XM_017011222.2:c.16894G>A | XP_016866711.1:p.Asp5632Asn | |
| XM_017011223.1:c.16879G>A | XP_016866712.1:p.Asp5627Asn | |
| XM_017011224.2:c.16108G>A | XP_016866713.1:p.Asp5370Asn | |
| XM_024446530.1:c.22783G>A | XP_024302298.1:p.Asp7595Asn | |
| NM_001144769.5:c.17008G>A | NP_001138241.1:p.Asp5670Asn | |
| NM_001144770.2:c.16594G>A | NP_001138242.1:p.Asp5532Asn | |
| NM_001374722.1:c.23365G>A | NP_001361651.1:p.Asp7789Asn | |
| NM_001374729.1:c.22366G>A | NP_001361658.1:p.Asp7456Asn | |
| NM_001374730.1:c.16108G>A | NP_001361659.1:p.Asp5370Asn | |
| NM_001374734.1:c.23392G>A | NP_001361663.1:p.Asp7798Asn | |
| NM_001374736.1:c.23437G>A MANE Select | NP_001361665.1:p.Asp7813Asn | |
| NM_015548.5:c.15496G>A | NP_056363.2:p.Asp5166Asn | |
| NM_183380.4:c.16474G>A | NP_899236.1:p.Asp5492Asn | |
| NM_001386100.1:c.16456G>A | NP_001373029.1:p.Asp5486Asn |