Linked Data
ClinVar Variation Id:
1106694
ClinVar RCV Id:
RCV001431543
dbSNP Id:
rs370820734
ExAC:
6:56328465 G / C
gnomAD v2:
6-56328465-G-C
gnomAD v3:
6-56463667-G-C
gnomAD v4:
6-56463667-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56463667G>C , CM000668.2:g.56463667G>C | GRCh38 |
| NC_000006.11:g.56328465G>C , CM000668.1:g.56328465G>C | GRCh37 |
| NC_000006.10:g.56436424G>C | NCBI36 |
| NG_029322.1:g.184230C>G | |
| NG_029322.2:g.495962C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.15894C>G | ENSP00000400883.3:p.Ser5298= | |
| ENST00000449297.7:c.16083C>G | ENSP00000393082.3:p.Ser5361= | |
| ENST00000520645.6:c.15669C>G | ENSP00000431030.2:p.Ser5223= | |
| ENST00000340834.10:c.7542C>G | ENSP00000489032.2:p.Ser2514= | |
| ENST00000651289.1:c.1276C>G | ||
| ENST00000651457.1:n.4579C>G | ||
| ENST00000651790.1:c.3554C>G | ||
| ENST00000651941.1:n.7351C>G | ||
| ENST00000680361.1:c.22857C>G MANE Select | ENSP00000505098.1:p.Ser7619= | |
| ENST00000244364.10:c.14916C>G | ENSP00000244364.6:p.Ser4972= | |
| ENST00000312431.10:c.16014C>G | ENSP00000307959.7:p.Ser5338= | |
| ENST00000361203.7:c.21897C>G | ENSP00000354508.3:p.Ser7299= | |
| ENST00000370754.9:c.16428C>G | ENSP00000359790.6:p.Ser5476= | |
| ENST00000370788.6:c.15639C>G | ENSP00000359824.2:p.Ser5213= | |
| ENST00000421834.6:c.15894C>G | ENSP00000400883.3:p.Ser5298= | |
| ENST00000466429.5:n.650C>G | ||
| ENST00000482156.5:n.1497C>G | ||
| ENST00000523292.5:c.290C>G | ||
| ENST00000523597.1:n.330C>G | ||
| NM_001144769.2:c.16428C>G | NP_001138241.1:p.Ser5476= | |
| NM_001144770.1:c.16014C>G | NP_001138242.1:p.Ser5338= | |
| NM_015548.4:c.14916C>G | NP_056363.2:p.Ser4972= | |
| NM_183380.3:c.15894C>G | NP_899236.1:p.Ser5298= | |
| XM_005249310.2:c.22857C>G | XP_005249367.1:p.Ser7619= | |
| XM_005249315.2:c.22758C>G | XP_005249372.1:p.Ser7586= | |
| XM_005249316.1:c.22572C>G | XP_005249373.1:p.Ser7524= | |
| XM_005249318.1:c.22443C>G | XP_005249375.1:p.Ser7481= | |
| XM_005249319.1:c.22344C>G | XP_005249376.1:p.Ser7448= | |
| XM_005249320.3:c.22323C>G | XP_005249377.1:p.Ser7441= | |
| XM_005249322.3:c.22302C>G | XP_005249379.1:p.Ser7434= | |
| XM_005249323.2:c.22224C>G | XP_005249380.1:p.Ser7408= | |
| XM_005249324.1:c.21246C>G | XP_005249381.1:p.Ser7082= | |
| XM_011514824.1:c.22785C>G | XP_011513126.1:p.Ser7595= | |
| XM_011514825.1:c.16455C>G | XP_011513127.1:p.Ser5485= | |
| XM_011514826.1:c.21897C>G | XP_011513128.1:p.Ser7299= | |
| XM_005249310.4:c.22857C>G | XP_005249367.1:p.Ser7619= | |
| XM_005249315.3:c.22758C>G | XP_005249372.1:p.Ser7586= | |
| XM_005249316.3:c.22572C>G | XP_005249373.1:p.Ser7524= | |
| XM_005249318.2:c.22443C>G | XP_005249375.1:p.Ser7481= | |
| XM_005249319.2:c.22344C>G | XP_005249376.1:p.Ser7448= | |
| XM_005249320.4:c.22323C>G | XP_005249377.1:p.Ser7441= | |
| XM_005249322.5:c.22302C>G | XP_005249379.1:p.Ser7434= | |
| XM_005249323.4:c.22224C>G | XP_005249380.1:p.Ser7408= | |
| XM_005249324.3:c.21246C>G | XP_005249381.1:p.Ser7082= | |
| XM_011514824.2:c.22785C>G | XP_011513126.1:p.Ser7595= | |
| XM_011514825.3:c.16455C>G | XP_011513127.1:p.Ser5485= | |
| XM_011514826.3:c.21897C>G | XP_011513128.1:p.Ser7299= | |
| XM_017011205.1:c.22884C>G | XP_016866694.1:p.Ser7628= | |
| XM_017011206.1:c.22866C>G | XP_016866695.1:p.Ser7622= | |
| XM_017011207.1:c.22821C>G | XP_016866696.1:p.Ser7607= | |
| XM_017011208.1:c.22812C>G | XP_016866697.1:p.Ser7604= | |
| XM_017011209.1:c.22794C>G | XP_016866698.1:p.Ser7598= | |
| XM_017011210.1:c.22884C>G | XP_016866699.1:p.Ser7628= | |
| XM_017011211.2:c.22812C>G | XP_016866700.1:p.Ser7604= | |
| XM_017011212.1:c.22650C>G | XP_016866701.1:p.Ser7550= | |
| XM_017011213.1:c.22557C>G | XP_016866702.1:p.Ser7519= | |
| XM_017011214.2:c.22485C>G | XP_016866703.1:p.Ser7495= | |
| XM_017011215.2:c.22557C>G | XP_016866704.1:p.Ser7519= | |
| XM_017011216.2:c.22485C>G | XP_016866705.1:p.Ser7495= | |
| XM_017011217.1:c.22260C>G | XP_016866706.1:p.Ser7420= | |
| XM_017011218.1:c.17451C>G | XP_016866707.1:p.Ser5817= | |
| XM_017011219.1:c.16626C>G | XP_016866708.1:p.Ser5542= | |
| XM_017011220.1:c.16500C>G | XP_016866709.1:p.Ser5500= | |
| XM_017011221.1:c.16392C>G | XP_016866710.1:p.Ser5464= | |
| XM_017011222.2:c.16314C>G | XP_016866711.1:p.Ser5438= | |
| XM_017011223.1:c.16299C>G | XP_016866712.1:p.Ser5433= | |
| XM_017011224.2:c.15639C>G | XP_016866713.1:p.Ser5213= | |
| XM_024446530.1:c.22203C>G | XP_024302298.1:p.Ser7401= | |
| NM_001144769.5:c.16428C>G | NP_001138241.1:p.Ser5476= | |
| NM_001144770.2:c.16014C>G | NP_001138242.1:p.Ser5338= | |
| NM_001374722.1:c.22785C>G | NP_001361651.1:p.Ser7595= | |
| NM_001374729.1:c.21897C>G | NP_001361658.1:p.Ser7299= | |
| NM_001374730.1:c.15639C>G | NP_001361659.1:p.Ser5213= | |
| NM_001374734.1:c.22812C>G | NP_001361663.1:p.Ser7604= | |
| NM_001374736.1:c.22857C>G MANE Select | NP_001361665.1:p.Ser7619= | |
| NM_015548.5:c.14916C>G | NP_056363.2:p.Ser4972= | |
| NM_183380.4:c.15894C>G | NP_899236.1:p.Ser5298= | |
| NM_001386100.1:c.15876C>G | NP_001373029.1:p.Ser5292= |