Linked Data
ClinVar Variation Id:
357619
dbSNP Id:
rs143101723
ExAC:
6:56505389 C / T
gnomAD v2:
6-56505389-C-T
gnomAD v3:
6-56640591-C-T
gnomAD v4:
6-56640591-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56640591C>T , CM000668.2:g.56640591C>T | GRCh38 |
| NC_000006.11:g.56505389C>T , CM000668.1:g.56505389C>T | GRCh37 |
| NC_000006.10:g.56613348C>T | NCBI36 |
| NG_029322.1:g.7306G>A | |
| NG_029322.2:g.319038G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.1409G>A | ENSP00000400883.3:p.Arg470His | |
| ENST00000449297.7:c.1943G>A | ENSP00000393082.3:p.Arg648His | |
| ENST00000520645.6:c.1529G>A | ENSP00000431030.2:p.Arg510His | |
| ENST00000370765.11:c.431G>A MANE Plus Clinical | ENSP00000359801.6:p.Arg144His | |
| ENST00000652573.1:c.1757G>A | ENSP00000498983.1:p.Arg586His | |
| ENST00000680361.1:c.2042G>A MANE Select | ENSP00000505098.1:p.Arg681His | |
| ENST00000244364.10:c.431G>A | ENSP00000244364.6:p.Arg144His | |
| ENST00000312431.10:c.1529G>A | ENSP00000307959.7:p.Arg510His | |
| ENST00000361203.7:c.1409G>A | ENSP00000354508.3:p.Arg470His | |
| ENST00000370754.9:c.1943G>A | ENSP00000359790.6:p.Arg648His | |
| ENST00000370765.10:c.431G>A | ENSP00000359801.6:p.Arg144His | |
| ENST00000370788.6:c.1409G>A | ENSP00000359824.2:p.Arg470His | |
| ENST00000421834.6:c.1409G>A | ENSP00000400883.3:p.Arg470His | |
| ENST00000439203.5:c.431G>A | ENSP00000404924.1:p.Arg144His | |
| ENST00000449297.6:c.1943G>A | ENSP00000393082.2:p.Arg648His | |
| ENST00000518935.5:c.431G>A | ENSP00000431003.1:p.Arg144His | |
| ENST00000520645.5:c.1529G>A | ENSP00000431030.1:p.Arg510His | |
| ENST00000521104.1:n.1911G>A | ||
| ENST00000523967.5:n.1639G>A | ||
| NM_001144769.2:c.1943G>A | NP_001138241.1:p.Arg648His | |
| NM_001144770.1:c.1529G>A | NP_001138242.1:p.Arg510His | |
| NM_001723.5:c.431G>A | NP_001714.1:p.Arg144His | |
| NM_015548.4:c.431G>A | NP_056363.2:p.Arg144His | |
| NM_183380.3:c.1409G>A | NP_899236.1:p.Arg470His | |
| XM_005249310.2:c.2042G>A | XP_005249367.1:p.Arg681His | |
| XM_005249315.2:c.1943G>A | XP_005249372.1:p.Arg648His | |
| XM_005249316.1:c.1757G>A | XP_005249373.1:p.Arg586His | |
| XM_005249318.1:c.1628G>A | XP_005249375.1:p.Arg543His | |
| XM_005249319.1:c.1529G>A | XP_005249376.1:p.Arg510His | |
| XM_005249320.3:c.1508G>A | XP_005249377.1:p.Arg503His | |
| XM_005249322.3:c.1487G>A | XP_005249379.1:p.Arg496His | |
| XM_005249323.2:c.1409G>A | XP_005249380.1:p.Arg470His | |
| XM_005249324.1:c.431G>A | XP_005249381.1:p.Arg144His | |
| XM_011514824.1:c.1970G>A | XP_011513126.1:p.Arg657His | |
| XM_011514825.1:c.1970G>A | XP_011513127.1:p.Arg657His | |
| XM_011514826.1:c.1409G>A | XP_011513128.1:p.Arg470His | |
| XM_005249310.4:c.2042G>A | XP_005249367.1:p.Arg681His | |
| XM_005249315.3:c.1943G>A | XP_005249372.1:p.Arg648His | |
| XM_005249316.3:c.1757G>A | XP_005249373.1:p.Arg586His | |
| XM_005249318.2:c.1628G>A | XP_005249375.1:p.Arg543His | |
| XM_005249319.2:c.1529G>A | XP_005249376.1:p.Arg510His | |
| XM_005249320.4:c.1508G>A | XP_005249377.1:p.Arg503His | |
| XM_005249322.5:c.1487G>A | XP_005249379.1:p.Arg496His | |
| XM_005249323.4:c.1409G>A | XP_005249380.1:p.Arg470His | |
| XM_005249324.3:c.431G>A | XP_005249381.1:p.Arg144His | |
| XM_011514824.2:c.1970G>A | XP_011513126.1:p.Arg657His | |
| XM_011514825.3:c.1970G>A | XP_011513127.1:p.Arg657His | |
| XM_011514826.3:c.1409G>A | XP_011513128.1:p.Arg470His | |
| XM_017011205.1:c.2069G>A | XP_016866694.1:p.Arg690His | |
| XM_017011206.1:c.2069G>A | XP_016866695.1:p.Arg690His | |
| XM_017011207.1:c.2006G>A | XP_016866696.1:p.Arg669His | |
| XM_017011208.1:c.2069G>A | XP_016866697.1:p.Arg690His | |
| XM_017011209.1:c.2069G>A | XP_016866698.1:p.Arg690His | |
| XM_017011210.1:c.2069G>A | XP_016866699.1:p.Arg690His | |
| XM_017011211.2:c.2069G>A | XP_016866700.1:p.Arg690His | |
| XM_017011212.1:c.2069G>A | XP_016866701.1:p.Arg690His | |
| XM_017011213.1:c.2069G>A | XP_016866702.1:p.Arg690His | |
| XM_017011214.2:c.2069G>A | XP_016866703.1:p.Arg690His | |
| XM_017011215.2:c.2069G>A | XP_016866704.1:p.Arg690His | |
| XM_017011216.2:c.2069G>A | XP_016866705.1:p.Arg690His | |
| XM_017011217.1:c.1445G>A | XP_016866706.1:p.Arg482His | |
| XM_017011219.1:c.2069G>A | XP_016866708.1:p.Arg690His | |
| XM_017011220.1:c.1943G>A | XP_016866709.1:p.Arg648His | |
| XM_017011221.1:c.2069G>A | XP_016866710.1:p.Arg690His | |
| XM_017011222.2:c.1757G>A | XP_016866711.1:p.Arg586His | |
| XM_017011223.1:c.2069G>A | XP_016866712.1:p.Arg690His | |
| XM_017011224.2:c.1409G>A | XP_016866713.1:p.Arg470His | |
| XM_017011225.2:c.2069G>A | XP_016866714.1:p.Arg690His | |
| XM_024446530.1:c.1388G>A | XP_024302298.1:p.Arg463His | |
| NM_001144769.5:c.1943G>A | NP_001138241.1:p.Arg648His | |
| NM_001144770.2:c.1529G>A | NP_001138242.1:p.Arg510His | |
| NM_001374722.1:c.2042G>A | NP_001361651.1:p.Arg681His | |
| NM_001374729.1:c.1409G>A | NP_001361658.1:p.Arg470His | |
| NM_001374730.1:c.1409G>A | NP_001361659.1:p.Arg470His | |
| NM_001374734.1:c.2069G>A | NP_001361663.1:p.Arg690His | |
| NM_001374736.1:c.2042G>A MANE Select | NP_001361665.1:p.Arg681His | |
| NM_001723.6:c.431G>A | NP_001714.1:p.Arg144His | |
| NM_015548.5:c.431G>A | NP_056363.2:p.Arg144His | |
| NM_183380.4:c.1409G>A | NP_899236.1:p.Arg470His | |
| NM_001386100.1:c.1409G>A | NP_001373029.1:p.Arg470His | |
| NM_001723.7:c.431G>A MANE Plus Clinical | NP_001714.1:p.Arg144His |