Linked Data
ClinVar Variation Id:
1051434
dbSNP Id:
rs774765327
ExAC:
6:56323949 C / T
gnomAD v2:
6-56323949-C-T
gnomAD v3:
6-56459151-C-T
gnomAD v4:
6-56459151-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56459151C>T , CM000668.2:g.56459151C>T | GRCh38 |
| NC_000006.11:g.56323949C>T , CM000668.1:g.56323949C>T | GRCh37 |
| NC_000006.10:g.56431908C>T | NCBI36 |
| NG_029322.1:g.188746G>A | |
| NG_029322.2:g.500478G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.16348G>A | ENSP00000400883.3:p.Val5450Met | |
| ENST00000449297.7:c.16537G>A | ENSP00000393082.3:p.Val5513Met | |
| ENST00000520645.6:c.16123G>A | ENSP00000431030.2:p.Val5375Met | |
| ENST00000340834.10:c.7885G>A | ENSP00000489032.2:p.Val2629Met | |
| ENST00000651289.1:c.1730G>A | ||
| ENST00000651457.1:n.4922G>A | ||
| ENST00000651790.1:c.3897G>A | ||
| ENST00000651941.1:n.7694G>A | ||
| ENST00000680361.1:c.23311G>A MANE Select | ENSP00000505098.1:p.Val7771Met | |
| ENST00000244364.10:c.15370G>A | ENSP00000244364.6:p.Val5124Met | |
| ENST00000312431.10:c.16468G>A | ENSP00000307959.7:p.Val5490Met | |
| ENST00000361203.7:c.22240G>A | ENSP00000354508.3:p.Val7414Met | |
| ENST00000370754.9:c.16882G>A | ENSP00000359790.6:p.Val5628Met | |
| ENST00000370788.6:c.15982G>A | ENSP00000359824.2:p.Val5328Met | |
| ENST00000421834.6:c.16348G>A | ENSP00000400883.3:p.Val5450Met | |
| ENST00000466429.5:n.1104G>A | ||
| ENST00000482156.5:n.1951G>A | ||
| ENST00000518464.5:n.2055G>A | ||
| ENST00000523292.5:c.633G>A | ||
| NM_001144769.2:c.16882G>A | NP_001138241.1:p.Val5628Met | |
| NM_001144770.1:c.16468G>A | NP_001138242.1:p.Val5490Met | |
| NM_015548.4:c.15370G>A | NP_056363.2:p.Val5124Met | |
| NM_183380.3:c.16348G>A | NP_899236.1:p.Val5450Met | |
| XM_005249310.2:c.23311G>A | XP_005249367.1:p.Val7771Met | |
| XM_005249315.2:c.23212G>A | XP_005249372.1:p.Val7738Met | |
| XM_005249316.1:c.23026G>A | XP_005249373.1:p.Val7676Met | |
| XM_005249318.1:c.22897G>A | XP_005249375.1:p.Val7633Met | |
| XM_005249319.1:c.22798G>A | XP_005249376.1:p.Val7600Met | |
| XM_005249320.3:c.22777G>A | XP_005249377.1:p.Val7593Met | |
| XM_005249322.3:c.22756G>A | XP_005249379.1:p.Val7586Met | |
| XM_005249323.2:c.22678G>A | XP_005249380.1:p.Val7560Met | |
| XM_005249324.1:c.21700G>A | XP_005249381.1:p.Val7234Met | |
| XM_011514824.1:c.23239G>A | XP_011513126.1:p.Val7747Met | |
| XM_011514825.1:c.16909G>A | XP_011513127.1:p.Val5637Met | |
| XM_011514826.1:c.22240G>A | XP_011513128.1:p.Val7414Met | |
| XM_005249310.4:c.23311G>A | XP_005249367.1:p.Val7771Met | |
| XM_005249315.3:c.23212G>A | XP_005249372.1:p.Val7738Met | |
| XM_005249316.3:c.23026G>A | XP_005249373.1:p.Val7676Met | |
| XM_005249318.2:c.22897G>A | XP_005249375.1:p.Val7633Met | |
| XM_005249319.2:c.22798G>A | XP_005249376.1:p.Val7600Met | |
| XM_005249320.4:c.22777G>A | XP_005249377.1:p.Val7593Met | |
| XM_005249322.5:c.22756G>A | XP_005249379.1:p.Val7586Met | |
| XM_005249323.4:c.22678G>A | XP_005249380.1:p.Val7560Met | |
| XM_005249324.3:c.21700G>A | XP_005249381.1:p.Val7234Met | |
| XM_011514824.2:c.23239G>A | XP_011513126.1:p.Val7747Met | |
| XM_011514825.3:c.16909G>A | XP_011513127.1:p.Val5637Met | |
| XM_011514826.3:c.22240G>A | XP_011513128.1:p.Val7414Met | |
| XM_017011205.1:c.23338G>A | XP_016866694.1:p.Val7780Met | |
| XM_017011206.1:c.23320G>A | XP_016866695.1:p.Val7774Met | |
| XM_017011207.1:c.23275G>A | XP_016866696.1:p.Val7759Met | |
| XM_017011208.1:c.23266G>A | XP_016866697.1:p.Val7756Met | |
| XM_017011209.1:c.23248G>A | XP_016866698.1:p.Val7750Met | |
| XM_017011210.1:c.23227G>A | XP_016866699.1:p.Val7743Met | |
| XM_017011211.2:c.23155G>A | XP_016866700.1:p.Val7719Met | |
| XM_017011212.1:c.23104G>A | XP_016866701.1:p.Val7702Met | |
| XM_017011213.1:c.23011G>A | XP_016866702.1:p.Val7671Met | |
| XM_017011214.2:c.22939G>A | XP_016866703.1:p.Val7647Met | |
| XM_017011215.2:c.22900G>A | XP_016866704.1:p.Val7634Met | |
| XM_017011216.2:c.22828G>A | XP_016866705.1:p.Val7610Met | |
| XM_017011217.1:c.22714G>A | XP_016866706.1:p.Val7572Met | |
| XM_017011218.1:c.17905G>A | XP_016866707.1:p.Val5969Met | |
| XM_017011219.1:c.17080G>A | XP_016866708.1:p.Val5694Met | |
| XM_017011220.1:c.16954G>A | XP_016866709.1:p.Val5652Met | |
| XM_017011221.1:c.16846G>A | XP_016866710.1:p.Val5616Met | |
| XM_017011222.2:c.16768G>A | XP_016866711.1:p.Val5590Met | |
| XM_017011223.1:c.16753G>A | XP_016866712.1:p.Val5585Met | |
| XM_017011224.2:c.15982G>A | XP_016866713.1:p.Val5328Met | |
| XM_024446530.1:c.22657G>A | XP_024302298.1:p.Val7553Met | |
| NM_001144769.5:c.16882G>A | NP_001138241.1:p.Val5628Met | |
| NM_001144770.2:c.16468G>A | NP_001138242.1:p.Val5490Met | |
| NM_001374722.1:c.23239G>A | NP_001361651.1:p.Val7747Met | |
| NM_001374729.1:c.22240G>A | NP_001361658.1:p.Val7414Met | |
| NM_001374730.1:c.15982G>A | NP_001361659.1:p.Val5328Met | |
| NM_001374734.1:c.23266G>A | NP_001361663.1:p.Val7756Met | |
| NM_001374736.1:c.23311G>A MANE Select | NP_001361665.1:p.Val7771Met | |
| NM_015548.5:c.15370G>A | NP_056363.2:p.Val5124Met | |
| NM_183380.4:c.16348G>A | NP_899236.1:p.Val5450Met | |
| NM_001386100.1:c.16330G>A | NP_001373029.1:p.Val5444Met |