Linked Data
ClinVar Variation Id:
3034202
ClinVar RCV Id:
RCV003904134
dbSNP Id:
rs554371778
ExAC:
6:56328399 C / T
gnomAD v2:
6-56328399-C-T
gnomAD v3:
6-56463601-C-T
gnomAD v4:
6-56463601-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56463601C>T , CM000668.2:g.56463601C>T | GRCh38 |
| NC_000006.11:g.56328399C>T , CM000668.1:g.56328399C>T | GRCh37 |
| NC_000006.10:g.56436358C>T | NCBI36 |
| NG_029322.1:g.184296G>A | |
| NG_029322.2:g.496028G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.15960G>A | ENSP00000400883.3:p.Ala5320= | |
| ENST00000449297.7:c.16149G>A | ENSP00000393082.3:p.Ala5383= | |
| ENST00000520645.6:c.15735G>A | ENSP00000431030.2:p.Ala5245= | |
| ENST00000340834.10:c.7608G>A | ENSP00000489032.2:p.Ala2536= | |
| ENST00000651289.1:c.1342G>A | ||
| ENST00000651457.1:n.4645G>A | ||
| ENST00000651790.1:c.3620G>A | ||
| ENST00000651941.1:n.7417G>A | ||
| ENST00000680361.1:c.22923G>A MANE Select | ENSP00000505098.1:p.Ala7641= | |
| ENST00000244364.10:c.14982G>A | ENSP00000244364.6:p.Ala4994= | |
| ENST00000312431.10:c.16080G>A | ENSP00000307959.7:p.Ala5360= | |
| ENST00000361203.7:c.21963G>A | ENSP00000354508.3:p.Ala7321= | |
| ENST00000370754.9:c.16494G>A | ENSP00000359790.6:p.Ala5498= | |
| ENST00000370788.6:c.15705G>A | ENSP00000359824.2:p.Ala5235= | |
| ENST00000421834.6:c.15960G>A | ENSP00000400883.3:p.Ala5320= | |
| ENST00000466429.5:n.716G>A | ||
| ENST00000482156.5:n.1563G>A | ||
| ENST00000523292.5:c.356G>A | ||
| ENST00000523597.1:n.396G>A | ||
| NM_001144769.2:c.16494G>A | NP_001138241.1:p.Ala5498= | |
| NM_001144770.1:c.16080G>A | NP_001138242.1:p.Ala5360= | |
| NM_015548.4:c.14982G>A | NP_056363.2:p.Ala4994= | |
| NM_183380.3:c.15960G>A | NP_899236.1:p.Ala5320= | |
| XM_005249310.2:c.22923G>A | XP_005249367.1:p.Ala7641= | |
| XM_005249315.2:c.22824G>A | XP_005249372.1:p.Ala7608= | |
| XM_005249316.1:c.22638G>A | XP_005249373.1:p.Ala7546= | |
| XM_005249318.1:c.22509G>A | XP_005249375.1:p.Ala7503= | |
| XM_005249319.1:c.22410G>A | XP_005249376.1:p.Ala7470= | |
| XM_005249320.3:c.22389G>A | XP_005249377.1:p.Ala7463= | |
| XM_005249322.3:c.22368G>A | XP_005249379.1:p.Ala7456= | |
| XM_005249323.2:c.22290G>A | XP_005249380.1:p.Ala7430= | |
| XM_005249324.1:c.21312G>A | XP_005249381.1:p.Ala7104= | |
| XM_011514824.1:c.22851G>A | XP_011513126.1:p.Ala7617= | |
| XM_011514825.1:c.16521G>A | XP_011513127.1:p.Ala5507= | |
| XM_011514826.1:c.21963G>A | XP_011513128.1:p.Ala7321= | |
| XM_005249310.4:c.22923G>A | XP_005249367.1:p.Ala7641= | |
| XM_005249315.3:c.22824G>A | XP_005249372.1:p.Ala7608= | |
| XM_005249316.3:c.22638G>A | XP_005249373.1:p.Ala7546= | |
| XM_005249318.2:c.22509G>A | XP_005249375.1:p.Ala7503= | |
| XM_005249319.2:c.22410G>A | XP_005249376.1:p.Ala7470= | |
| XM_005249320.4:c.22389G>A | XP_005249377.1:p.Ala7463= | |
| XM_005249322.5:c.22368G>A | XP_005249379.1:p.Ala7456= | |
| XM_005249323.4:c.22290G>A | XP_005249380.1:p.Ala7430= | |
| XM_005249324.3:c.21312G>A | XP_005249381.1:p.Ala7104= | |
| XM_011514824.2:c.22851G>A | XP_011513126.1:p.Ala7617= | |
| XM_011514825.3:c.16521G>A | XP_011513127.1:p.Ala5507= | |
| XM_011514826.3:c.21963G>A | XP_011513128.1:p.Ala7321= | |
| XM_017011205.1:c.22950G>A | XP_016866694.1:p.Ala7650= | |
| XM_017011206.1:c.22932G>A | XP_016866695.1:p.Ala7644= | |
| XM_017011207.1:c.22887G>A | XP_016866696.1:p.Ala7629= | |
| XM_017011208.1:c.22878G>A | XP_016866697.1:p.Ala7626= | |
| XM_017011209.1:c.22860G>A | XP_016866698.1:p.Ala7620= | |
| XM_017011210.1:c.22950G>A | XP_016866699.1:p.Ala7650= | |
| XM_017011211.2:c.22878G>A | XP_016866700.1:p.Ala7626= | |
| XM_017011212.1:c.22716G>A | XP_016866701.1:p.Ala7572= | |
| XM_017011213.1:c.22623G>A | XP_016866702.1:p.Ala7541= | |
| XM_017011214.2:c.22551G>A | XP_016866703.1:p.Ala7517= | |
| XM_017011215.2:c.22623G>A | XP_016866704.1:p.Ala7541= | |
| XM_017011216.2:c.22551G>A | XP_016866705.1:p.Ala7517= | |
| XM_017011217.1:c.22326G>A | XP_016866706.1:p.Ala7442= | |
| XM_017011218.1:c.17517G>A | XP_016866707.1:p.Ala5839= | |
| XM_017011219.1:c.16692G>A | XP_016866708.1:p.Ala5564= | |
| XM_017011220.1:c.16566G>A | XP_016866709.1:p.Ala5522= | |
| XM_017011221.1:c.16458G>A | XP_016866710.1:p.Ala5486= | |
| XM_017011222.2:c.16380G>A | XP_016866711.1:p.Ala5460= | |
| XM_017011223.1:c.16365G>A | XP_016866712.1:p.Ala5455= | |
| XM_017011224.2:c.15705G>A | XP_016866713.1:p.Ala5235= | |
| XM_024446530.1:c.22269G>A | XP_024302298.1:p.Ala7423= | |
| NM_001144769.5:c.16494G>A | NP_001138241.1:p.Ala5498= | |
| NM_001144770.2:c.16080G>A | NP_001138242.1:p.Ala5360= | |
| NM_001374722.1:c.22851G>A | NP_001361651.1:p.Ala7617= | |
| NM_001374729.1:c.21963G>A | NP_001361658.1:p.Ala7321= | |
| NM_001374730.1:c.15705G>A | NP_001361659.1:p.Ala5235= | |
| NM_001374734.1:c.22878G>A | NP_001361663.1:p.Ala7626= | |
| NM_001374736.1:c.22923G>A MANE Select | NP_001361665.1:p.Ala7641= | |
| NM_015548.5:c.14982G>A | NP_056363.2:p.Ala4994= | |
| NM_183380.4:c.15960G>A | NP_899236.1:p.Ala5320= | |
| NM_001386100.1:c.15942G>A | NP_001373029.1:p.Ala5314= |