Linked Data
ClinVar Variation Id:
204935
dbSNP Id:
rs762394421
ExAC:
2:152695841 C / T
gnomAD v2:
2-152695841-C-T
gnomAD v3:
2-151839327-C-T
gnomAD v4:
2-151839327-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151839327C>T , CM000664.2:g.151839327C>T | GRCh38 |
| NC_000002.11:g.152695841C>T , CM000664.1:g.152695841C>T | GRCh37 |
| NC_000002.10:g.152404087C>T | NCBI36 |
| NG_012641.1:g.264753G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534999.7:c.1253G>A | ENSP00000443893.1:p.Arg418Lys | |
| ENST00000201943.10:c.1169G>A | ENSP00000201943.5:p.Arg390Lys | |
| ENST00000360283.11:c.1211G>A | ENSP00000353425.8:p.Arg404Lys | |
| ENST00000397327.7:c.1118G>A | ENSP00000380490.3:p.Arg373Lys | |
| ENST00000427385.6:c.1232G>A | ENSP00000410978.2:p.Arg411Lys | |
| ENST00000439467.6:c.1214G>A | ENSP00000390161.2:p.Arg405Lys | |
| ENST00000534999.6:c.1253G>A | ENSP00000443893.1:p.Arg418Lys | |
| ENST00000539935.7:c.1355G>A MANE Select | ENSP00000438949.1:p.Arg452Lys | |
| ENST00000635738.1:c.*570G>A | ENSP00000489881.1:n.*570G>A | |
| ENST00000635803.1:n.1426G>A | ||
| ENST00000635890.1:c.344G>A | ||
| ENST00000635904.1:c.*1066G>A | ENSP00000490430.1:n.*1066G>A | |
| ENST00000635930.1:c.*385G>A | ENSP00000489953.1:n.*385G>A | |
| ENST00000636024.1:c.184+2341G>A | ||
| ENST00000636108.1:c.797G>A | ENSP00000490176.1:p.Arg266Lys | |
| ENST00000636130.1:c.1028G>A | ENSP00000490607.1:p.Arg343Lys | |
| ENST00000636350.1:c.1151G>A | ENSP00000489621.1:p.Arg384Lys | |
| ENST00000636380.1:c.848G>A | ENSP00000490488.1:p.Arg283Lys | |
| ENST00000636442.1:c.1178G>A | ENSP00000489779.1:p.Arg393Lys | |
| ENST00000636507.1:c.*570G>A | ENSP00000490252.1:n.*570G>A | |
| ENST00000636598.1:c.1214G>A | ENSP00000490247.1:p.Arg405Lys | |
| ENST00000636617.1:c.1016G>A | ENSP00000490660.1:p.Arg339Lys | |
| ENST00000636664.1:c.*289G>A | ENSP00000490572.1:n.*289G>A | |
| ENST00000636721.1:c.611G>A | ENSP00000490795.1:p.Arg204Lys | |
| ENST00000636762.1:c.*757G>A | ENSP00000490918.1:n.*757G>A | |
| ENST00000636773.1:c.1028G>A | ENSP00000489818.1:p.Arg343Lys | |
| ENST00000636785.1:c.884G>A | ENSP00000489788.1:p.Arg295Lys | |
| ENST00000636810.1:n.3418G>A | ||
| ENST00000636831.1:n.3087G>A | ||
| ENST00000636901.1:c.971G>A | ENSP00000490145.1:p.Arg324Lys | |
| ENST00000637007.1:c.560G>A | ||
| ENST00000637132.1:c.*385G>A | ENSP00000490651.1:n.*385G>A | |
| ENST00000637217.1:c.1214G>A | ENSP00000490250.1:p.Arg405Lys | |
| ENST00000637224.1:c.*827+14121G>A | ENSP00000490276.1:n.*827+14121G>A | |
| ENST00000637232.1:c.*181G>A | ENSP00000490138.1:n.*181G>A | |
| ENST00000637284.1:c.797G>A | ENSP00000489787.1:p.Arg266Lys | |
| ENST00000637309.1:c.*40G>A | ENSP00000490127.1:n.*40G>A | |
| ENST00000637312.1:c.*624G>A | ENSP00000490144.1:n.*624G>A | |
| ENST00000637319.1:n.2928G>A | ||
| ENST00000637330.1:c.*1196G>A | ENSP00000490817.1:n.*1196G>A | |
| ENST00000637418.1:c.1130G>A | ENSP00000489679.1:p.Arg377Lys | |
| ENST00000637436.1:c.*1173G>A | ENSP00000489746.1:n.*1173G>A | |
| ENST00000637491.1:c.*570G>A | ENSP00000490510.1:n.*570G>A | |
| ENST00000637514.1:c.797G>A | ENSP00000490304.1:p.Arg266Lys | |
| ENST00000637530.1:n.2768G>A | ||
| ENST00000637535.1:c.*385G>A | ENSP00000490891.1:n.*385G>A | |
| ENST00000637547.1:c.716G>A | ENSP00000490124.1:p.Arg239Lys | |
| ENST00000637550.1:c.*181G>A | ENSP00000489943.1:n.*181G>A | |
| ENST00000637559.1:c.*332+2576G>A | ENSP00000489697.1:n.*332+2576G>A | |
| ENST00000637762.1:c.1265G>A | ENSP00000489876.1:p.Arg422Lys | |
| ENST00000637765.1:n.2672G>A | ||
| ENST00000637779.1:c.1064G>A | ENSP00000489732.1:p.Arg355Lys | |
| ENST00000637828.1:c.*104G>A | ENSP00000490443.1:n.*104G>A | |
| ENST00000637913.1:n.1340G>A | ||
| ENST00000637942.1:n.1506G>A | ||
| ENST00000637956.1:c.*199G>A | ENSP00000490298.1:n.*199G>A | |
| ENST00000638005.1:c.1301G>A | ENSP00000489677.1:p.Arg434Lys | |
| ENST00000638040.1:c.1025G>A | ENSP00000489883.1:p.Arg342Lys | |
| ENST00000638091.1:c.1067G>A | ENSP00000489967.1:p.Arg356Lys | |
| ENST00000638150.1:c.*586G>A | ENSP00000490501.1:n.*586G>A | |
| ENST00000201943.9:c.1169G>A | ENSP00000201943.5:p.Arg390Lys | |
| ENST00000360283.10:c.*570G>A | ENSP00000353425.7:n.*570G>A | |
| ENST00000397327.6:c.1214G>A | ENSP00000380490.2:p.Arg405Lys | |
| ENST00000427385.5:c.1301G>A | ENSP00000410978.1:p.Arg434Lys | |
| ENST00000439467.5:c.1340G>A | ENSP00000390161.1:p.Arg447Lys | |
| ENST00000534999.5:c.1253G>A | ENSP00000443893.1:p.Arg418Lys | |
| ENST00000539935.5:c.1355G>A | ENSP00000438949.1:p.Arg452Lys | |
| NM_000726.3:c.1355G>A | NP_000717.2:p.Arg452Lys | |
| NM_001005746.2:c.1301G>A | NP_001005746.1:p.Arg434Lys | |
| NM_001005747.2:c.1253G>A | NP_001005747.1:p.Arg418Lys | |
| NM_001145798.1:c.1169G>A | NP_001139270.1:p.Arg390Lys | |
| XM_006712731.1:c.1214G>A | XP_006712794.1:p.Arg405Lys | |
| XM_011511795.1:c.1214G>A | XP_011510097.1:p.Arg405Lys | |
| XM_011511796.1:c.1211G>A | XP_011510098.1:p.Arg404Lys | |
| XM_011511797.1:c.1166G>A | XP_011510099.1:p.Arg389Lys | |
| XM_011511800.1:c.701G>A | XP_011510102.1:p.Arg234Lys | |
| XR_923022.1:n.2404G>A | ||
| NM_000726.4:c.1355G>A | NP_000717.2:p.Arg452Lys | |
| NM_001005746.3:c.1301G>A | NP_001005746.1:p.Arg434Lys | |
| NM_001005747.3:c.1253G>A | NP_001005747.1:p.Arg418Lys | |
| NM_001145798.2:c.1169G>A | NP_001139270.1:p.Arg390Lys | |
| NM_001320722.2:c.1214G>A | NP_001307651.1:p.Arg405Lys | |
| NM_001330113.1:c.1112G>A | NP_001317042.1:p.Arg371Lys | |
| NM_001330114.1:c.701G>A | NP_001317043.1:p.Arg234Lys | |
| NM_001330115.1:c.1064G>A | NP_001317044.1:p.Arg355Lys | |
| NM_001330116.1:c.1025G>A | NP_001317045.1:p.Arg342Lys | |
| NM_001330117.1:c.797G>A | NP_001317046.1:p.Arg266Lys | |
| NM_001330118.1:c.1214G>A | NP_001317047.1:p.Arg405Lys | |
| XM_011511796.2:c.1211G>A | XP_011510098.1:p.Arg404Lys | |
| XM_011511797.3:c.1166G>A | XP_011510099.1:p.Arg389Lys | |
| XM_017004885.1:c.701G>A | XP_016860374.1:p.Arg234Lys | |
| XM_024453128.1:c.797G>A | XP_024308896.1:p.Arg266Lys | |
| XR_001738928.1:n.3213G>A | ||
| XR_001738935.1:n.1323G>A | ||
| XR_001738937.2:n.1464G>A | ||
| XR_001738938.2:n.2133G>A | ||
| XR_001738939.1:n.1433G>A | ||
| XR_001738940.2:n.1574G>A | ||
| XR_002959337.1:n.1743G>A | ||
| XR_002959338.1:n.1705G>A | ||
| XR_923022.3:n.1580G>A | ||
| NM_001005746.4:c.1301G>A | NP_001005746.1:p.Arg434Lys | |
| NM_001005747.4:c.1253G>A | NP_001005747.1:p.Arg418Lys | |
| NM_001320722.3:c.1214G>A | NP_001307651.1:p.Arg405Lys | |
| NM_001330113.2:c.1112G>A | NP_001317042.1:p.Arg371Lys | |
| NM_001330114.2:c.701G>A | NP_001317043.1:p.Arg234Lys | |
| NM_001330115.2:c.1064G>A | NP_001317044.1:p.Arg355Lys | |
| NM_001330116.2:c.1025G>A | NP_001317045.1:p.Arg342Lys | |
| NM_001330117.2:c.797G>A | NP_001317046.1:p.Arg266Lys | |
| NM_000726.5:c.1355G>A MANE Select | NP_000717.2:p.Arg452Lys |