Linked Data
ClinVar Variation Id:
3048402
ClinVar RCV Id:
RCV003952160
dbSNP Id:
rs767376487
ExAC:
6:56500477 T / C
gnomAD v2:
6-56500477-T-C
gnomAD v4:
6-56635679-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56635679T>C , CM000668.2:g.56635679T>C | GRCh38 |
| NC_000006.11:g.56500477T>C , CM000668.1:g.56500477T>C | GRCh37 |
| NC_000006.10:g.56608436T>C | NCBI36 |
| NG_029322.1:g.12218A>G | |
| NG_029322.2:g.323950A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.2463A>G | ENSP00000400883.3:p.Leu821= | |
| ENST00000449297.7:c.2997A>G | ENSP00000393082.3:p.Leu999= | |
| ENST00000520645.6:c.2583A>G | ENSP00000431030.2:p.Leu861= | |
| ENST00000370765.11:c.1485A>G MANE Plus Clinical | ENSP00000359801.6:p.Leu495= | |
| ENST00000652573.1:c.2811A>G | ENSP00000498983.1:p.Leu937= | |
| ENST00000680361.1:c.3096A>G MANE Select | ENSP00000505098.1:p.Leu1032= | |
| ENST00000244364.10:c.1485A>G | ENSP00000244364.6:p.Leu495= | |
| ENST00000312431.10:c.2583A>G | ENSP00000307959.7:p.Leu861= | |
| ENST00000361203.7:c.2463A>G | ENSP00000354508.3:p.Leu821= | |
| ENST00000370754.9:c.2997A>G | ENSP00000359790.6:p.Leu999= | |
| ENST00000370765.10:c.1485A>G | ENSP00000359801.6:p.Leu495= | |
| ENST00000370788.6:c.2463A>G | ENSP00000359824.2:p.Leu821= | |
| ENST00000421834.6:c.2463A>G | ENSP00000400883.3:p.Leu821= | |
| ENST00000439203.5:c.1485A>G | ENSP00000404924.1:p.Leu495= | |
| ENST00000518935.5:c.1485A>G | ENSP00000431003.1:p.Leu495= | |
| ENST00000520645.5:c.2583A>G | ENSP00000431030.1:p.Leu861= | |
| NM_001144769.2:c.2997A>G | NP_001138241.1:p.Leu999= | |
| NM_001144770.1:c.2583A>G | NP_001138242.1:p.Leu861= | |
| NM_001723.5:c.1485A>G | NP_001714.1:p.Leu495= | |
| NM_015548.4:c.1485A>G | NP_056363.2:p.Leu495= | |
| NM_183380.3:c.2463A>G | NP_899236.1:p.Leu821= | |
| XM_005249310.2:c.3096A>G | XP_005249367.1:p.Leu1032= | |
| XM_005249315.2:c.2997A>G | XP_005249372.1:p.Leu999= | |
| XM_005249316.1:c.2811A>G | XP_005249373.1:p.Leu937= | |
| XM_005249318.1:c.2682A>G | XP_005249375.1:p.Leu894= | |
| XM_005249319.1:c.2583A>G | XP_005249376.1:p.Leu861= | |
| XM_005249320.3:c.2562A>G | XP_005249377.1:p.Leu854= | |
| XM_005249322.3:c.2541A>G | XP_005249379.1:p.Leu847= | |
| XM_005249323.2:c.2463A>G | XP_005249380.1:p.Leu821= | |
| XM_005249324.1:c.1485A>G | XP_005249381.1:p.Leu495= | |
| XM_011514824.1:c.3024A>G | XP_011513126.1:p.Leu1008= | |
| XM_011514825.1:c.3024A>G | XP_011513127.1:p.Leu1008= | |
| XM_011514826.1:c.2463A>G | XP_011513128.1:p.Leu821= | |
| XM_005249310.4:c.3096A>G | XP_005249367.1:p.Leu1032= | |
| XM_005249315.3:c.2997A>G | XP_005249372.1:p.Leu999= | |
| XM_005249316.3:c.2811A>G | XP_005249373.1:p.Leu937= | |
| XM_005249318.2:c.2682A>G | XP_005249375.1:p.Leu894= | |
| XM_005249319.2:c.2583A>G | XP_005249376.1:p.Leu861= | |
| XM_005249320.4:c.2562A>G | XP_005249377.1:p.Leu854= | |
| XM_005249322.5:c.2541A>G | XP_005249379.1:p.Leu847= | |
| XM_005249323.4:c.2463A>G | XP_005249380.1:p.Leu821= | |
| XM_005249324.3:c.1485A>G | XP_005249381.1:p.Leu495= | |
| XM_011514824.2:c.3024A>G | XP_011513126.1:p.Leu1008= | |
| XM_011514825.3:c.3024A>G | XP_011513127.1:p.Leu1008= | |
| XM_011514826.3:c.2463A>G | XP_011513128.1:p.Leu821= | |
| XM_017011205.1:c.3123A>G | XP_016866694.1:p.Leu1041= | |
| XM_017011206.1:c.3123A>G | XP_016866695.1:p.Leu1041= | |
| XM_017011207.1:c.3060A>G | XP_016866696.1:p.Leu1020= | |
| XM_017011208.1:c.3123A>G | XP_016866697.1:p.Leu1041= | |
| XM_017011209.1:c.3123A>G | XP_016866698.1:p.Leu1041= | |
| XM_017011210.1:c.3123A>G | XP_016866699.1:p.Leu1041= | |
| XM_017011211.2:c.3123A>G | XP_016866700.1:p.Leu1041= | |
| XM_017011212.1:c.3123A>G | XP_016866701.1:p.Leu1041= | |
| XM_017011213.1:c.3123A>G | XP_016866702.1:p.Leu1041= | |
| XM_017011214.2:c.3123A>G | XP_016866703.1:p.Leu1041= | |
| XM_017011215.2:c.3123A>G | XP_016866704.1:p.Leu1041= | |
| XM_017011216.2:c.3123A>G | XP_016866705.1:p.Leu1041= | |
| XM_017011217.1:c.2499A>G | XP_016866706.1:p.Leu833= | |
| XM_017011219.1:c.3123A>G | XP_016866708.1:p.Leu1041= | |
| XM_017011220.1:c.2997A>G | XP_016866709.1:p.Leu999= | |
| XM_017011221.1:c.3123A>G | XP_016866710.1:p.Leu1041= | |
| XM_017011222.2:c.2811A>G | XP_016866711.1:p.Leu937= | |
| XM_017011223.1:c.3123A>G | XP_016866712.1:p.Leu1041= | |
| XM_017011224.2:c.2463A>G | XP_016866713.1:p.Leu821= | |
| XM_017011225.2:c.3123A>G | XP_016866714.1:p.Leu1041= | |
| XM_024446530.1:c.2442A>G | XP_024302298.1:p.Leu814= | |
| NM_001144769.5:c.2997A>G | NP_001138241.1:p.Leu999= | |
| NM_001144770.2:c.2583A>G | NP_001138242.1:p.Leu861= | |
| NM_001374722.1:c.3096A>G | NP_001361651.1:p.Leu1032= | |
| NM_001374729.1:c.2463A>G | NP_001361658.1:p.Leu821= | |
| NM_001374730.1:c.2463A>G | NP_001361659.1:p.Leu821= | |
| NM_001374734.1:c.3123A>G | NP_001361663.1:p.Leu1041= | |
| NM_001374736.1:c.3096A>G MANE Select | NP_001361665.1:p.Leu1032= | |
| NM_001723.6:c.1485A>G | NP_001714.1:p.Leu495= | |
| NM_015548.5:c.1485A>G | NP_056363.2:p.Leu495= | |
| NM_183380.4:c.2463A>G | NP_899236.1:p.Leu821= | |
| NM_001386100.1:c.2463A>G | NP_001373029.1:p.Leu821= | |
| NM_001723.7:c.1485A>G MANE Plus Clinical | NP_001714.1:p.Leu495= |