Linked Data
ClinVar Variation Id:
648459
ClinVar RCV Id:
RCV000803193
dbSNP Id:
rs774799170
ExAC:
6:56327858 C / T
gnomAD v2:
6-56327858-C-T
gnomAD v3:
6-56463060-C-T
gnomAD v4:
6-56463060-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56463060C>T , CM000668.2:g.56463060C>T | GRCh38 |
| NC_000006.11:g.56327858C>T , CM000668.1:g.56327858C>T | GRCh37 |
| NC_000006.10:g.56435817C>T | NCBI36 |
| NG_029322.1:g.184837G>A | |
| NG_029322.2:g.496569G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.16093G>A | ENSP00000400883.3:p.Val5365Met | |
| ENST00000449297.7:c.16282G>A | ENSP00000393082.3:p.Val5428Met | |
| ENST00000520645.6:c.15868G>A | ENSP00000431030.2:p.Val5290Met | |
| ENST00000340834.10:c.7644+505G>A | ENSP00000489032.2:n.7644+505G>A | |
| ENST00000651289.1:c.1475G>A | ||
| ENST00000651457.1:n.4681+505G>A | ||
| ENST00000651790.1:c.3656+505G>A | ||
| ENST00000651941.1:n.7453+505G>A | ||
| ENST00000680361.1:c.23056G>A MANE Select | ENSP00000505098.1:p.Val7686Met | |
| ENST00000244364.10:c.15115G>A | ENSP00000244364.6:p.Val5039Met | |
| ENST00000312431.10:c.16213G>A | ENSP00000307959.7:p.Val5405Met | |
| ENST00000361203.7:c.21999+505G>A | ENSP00000354508.3:n.21999+505G>A | |
| ENST00000370754.9:c.16627G>A | ENSP00000359790.6:p.Val5543Met | |
| ENST00000370788.6:c.15741+505G>A | ENSP00000359824.2:n.15741+505G>A | |
| ENST00000421834.6:c.16093G>A | ENSP00000400883.3:p.Val5365Met | |
| ENST00000466429.5:n.849G>A | ||
| ENST00000482156.5:n.1696G>A | ||
| ENST00000523292.5:c.392+505G>A | ||
| ENST00000523597.1:n.529G>A | ||
| NM_001144769.2:c.16627G>A | NP_001138241.1:p.Val5543Met | |
| NM_001144770.1:c.16213G>A | NP_001138242.1:p.Val5405Met | |
| NM_015548.4:c.15115G>A | NP_056363.2:p.Val5039Met | |
| NM_183380.3:c.16093G>A | NP_899236.1:p.Val5365Met | |
| XM_005249310.2:c.23056G>A | XP_005249367.1:p.Val7686Met | |
| XM_005249315.2:c.22957G>A | XP_005249372.1:p.Val7653Met | |
| XM_005249316.1:c.22771G>A | XP_005249373.1:p.Val7591Met | |
| XM_005249318.1:c.22642G>A | XP_005249375.1:p.Val7548Met | |
| XM_005249319.1:c.22543G>A | XP_005249376.1:p.Val7515Met | |
| XM_005249320.3:c.22522G>A | XP_005249377.1:p.Val7508Met | |
| XM_005249322.3:c.22501G>A | XP_005249379.1:p.Val7501Met | |
| XM_005249323.2:c.22423G>A | XP_005249380.1:p.Val7475Met | |
| XM_005249324.1:c.21445G>A | XP_005249381.1:p.Val7149Met | |
| XM_011514824.1:c.22984G>A | XP_011513126.1:p.Val7662Met | |
| XM_011514825.1:c.16654G>A | XP_011513127.1:p.Val5552Met | |
| XM_011514826.1:c.21999+505G>A | XP_011513128.1:n.21999+505G>A | |
| XM_005249310.4:c.23056G>A | XP_005249367.1:p.Val7686Met | |
| XM_005249315.3:c.22957G>A | XP_005249372.1:p.Val7653Met | |
| XM_005249316.3:c.22771G>A | XP_005249373.1:p.Val7591Met | |
| XM_005249318.2:c.22642G>A | XP_005249375.1:p.Val7548Met | |
| XM_005249319.2:c.22543G>A | XP_005249376.1:p.Val7515Met | |
| XM_005249320.4:c.22522G>A | XP_005249377.1:p.Val7508Met | |
| XM_005249322.5:c.22501G>A | XP_005249379.1:p.Val7501Met | |
| XM_005249323.4:c.22423G>A | XP_005249380.1:p.Val7475Met | |
| XM_005249324.3:c.21445G>A | XP_005249381.1:p.Val7149Met | |
| XM_011514824.2:c.22984G>A | XP_011513126.1:p.Val7662Met | |
| XM_011514825.3:c.16654G>A | XP_011513127.1:p.Val5552Met | |
| XM_011514826.3:c.21999+505G>A | XP_011513128.1:n.21999+505G>A | |
| XM_017011205.1:c.23083G>A | XP_016866694.1:p.Val7695Met | |
| XM_017011206.1:c.23065G>A | XP_016866695.1:p.Val7689Met | |
| XM_017011207.1:c.23020G>A | XP_016866696.1:p.Val7674Met | |
| XM_017011208.1:c.23011G>A | XP_016866697.1:p.Val7671Met | |
| XM_017011209.1:c.22993G>A | XP_016866698.1:p.Val7665Met | |
| XM_017011210.1:c.22986+505G>A | XP_016866699.1:n.22986+505G>A | |
| XM_017011211.2:c.22914+505G>A | XP_016866700.1:n.22914+505G>A | |
| XM_017011212.1:c.22849G>A | XP_016866701.1:p.Val7617Met | |
| XM_017011213.1:c.22756G>A | XP_016866702.1:p.Val7586Met | |
| XM_017011214.2:c.22684G>A | XP_016866703.1:p.Val7562Met | |
| XM_017011215.2:c.22659+505G>A | XP_016866704.1:n.22659+505G>A | |
| XM_017011216.2:c.22587+505G>A | XP_016866705.1:n.22587+505G>A | |
| XM_017011217.1:c.22459G>A | XP_016866706.1:p.Val7487Met | |
| XM_017011218.1:c.17650G>A | XP_016866707.1:p.Val5884Met | |
| XM_017011219.1:c.16825G>A | XP_016866708.1:p.Val5609Met | |
| XM_017011220.1:c.16699G>A | XP_016866709.1:p.Val5567Met | |
| XM_017011221.1:c.16591G>A | XP_016866710.1:p.Val5531Met | |
| XM_017011222.2:c.16513G>A | XP_016866711.1:p.Val5505Met | |
| XM_017011223.1:c.16498G>A | XP_016866712.1:p.Val5500Met | |
| XM_017011224.2:c.15741+505G>A | XP_016866713.1:n.15741+505G>A | |
| XM_024446530.1:c.22402G>A | XP_024302298.1:p.Val7468Met | |
| NM_001144769.5:c.16627G>A | NP_001138241.1:p.Val5543Met | |
| NM_001144770.2:c.16213G>A | NP_001138242.1:p.Val5405Met | |
| NM_001374722.1:c.22984G>A | NP_001361651.1:p.Val7662Met | |
| NM_001374729.1:c.21999+505G>A | NP_001361658.1:n.21999+505G>A | |
| NM_001374730.1:c.15741+505G>A | NP_001361659.1:n.15741+505G>A | |
| NM_001374734.1:c.23011G>A | NP_001361663.1:p.Val7671Met | |
| NM_001374736.1:c.23056G>A MANE Select | NP_001361665.1:p.Val7686Met | |
| NM_015548.5:c.15115G>A | NP_056363.2:p.Val5039Met | |
| NM_183380.4:c.16093G>A | NP_899236.1:p.Val5365Met | |
| NM_001386100.1:c.16075G>A | NP_001373029.1:p.Val5359Met |