Linked Data
ClinVar Variation Id:
7608
dbSNP Id:
rs1805031
ExAC:
2:152737393 C / A
gnomAD v2:
2-152737393-C-A
gnomAD v3:
2-151880879-C-A
gnomAD v4:
2-151880879-C-A
PubMed:
PMID:10762541
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151880879C>A , CM000664.2:g.151880879C>A | GRCh38 |
| NC_000002.11:g.152737393C>A , CM000664.1:g.152737393C>A | GRCh37 |
| NC_000002.10:g.152445639C>A | NCBI36 |
| NG_012641.1:g.223201G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534999.7:c.209G>T | ENSP00000443893.1:p.Cys70Phe | |
| ENST00000201943.10:c.311G>T | ENSP00000201943.5:p.Cys104Phe | |
| ENST00000360283.11:c.209G>T | ENSP00000353425.8:p.Cys70Phe | |
| ENST00000397327.7:c.170G>T | ENSP00000380490.3:p.Cys57Phe | |
| ENST00000427385.6:c.267+2372G>T | ENSP00000410978.2:n.267+2372G>T | |
| ENST00000434468.2:c.126+2372G>T | ENSP00000399242.2:n.126+2372G>T | |
| ENST00000439467.6:c.170G>T | ENSP00000390161.2:p.Cys57Phe | |
| ENST00000470066.2:n.440G>T | ||
| ENST00000534999.6:c.209G>T | ENSP00000443893.1:p.Cys70Phe | |
| ENST00000539935.7:c.311G>T MANE Select | ENSP00000438949.1:p.Cys104Phe | |
| ENST00000635738.1:c.209G>T | ENSP00000489881.1:p.Cys70Phe | |
| ENST00000635743.1:n.438G>T | ||
| ENST00000635803.1:n.630+2372G>T | ||
| ENST00000635835.1:n.443G>T | ||
| ENST00000635904.1:c.170G>T | ENSP00000490430.1:p.Cys57Phe | |
| ENST00000635930.1:c.-248G>T | ENSP00000489953.1:n.-248G>T | |
| ENST00000636108.1:c.170G>T | ENSP00000490176.1:p.Cys57Phe | |
| ENST00000636129.1:c.257G>T | ENSP00000489912.1:p.Cys86Phe | |
| ENST00000636130.1:c.170G>T | ENSP00000490607.1:p.Cys57Phe | |
| ENST00000636350.1:c.165+2372G>T | ENSP00000489621.1:n.165+2372G>T | |
| ENST00000636380.1:c.170G>T | ENSP00000490488.1:p.Cys57Phe | |
| ENST00000636442.1:c.213+2372G>T | ENSP00000489779.1:n.213+2372G>T | |
| ENST00000636507.1:c.170G>T | ENSP00000490252.1:p.Cys57Phe | |
| ENST00000636598.1:c.170G>T | ENSP00000490247.1:p.Cys57Phe | |
| ENST00000636617.1:c.209G>T | ENSP00000490660.1:p.Cys70Phe | |
| ENST00000636664.1:c.209G>T | ENSP00000490572.1:p.Cys70Phe | |
| ENST00000636721.1:c.170G>T | ENSP00000490795.1:p.Cys57Phe | |
| ENST00000636762.1:c.257G>T | ENSP00000490918.1:p.Cys86Phe | |
| ENST00000636773.1:c.170G>T | ENSP00000489818.1:p.Cys57Phe | |
| ENST00000636785.1:c.257G>T | ENSP00000489788.1:p.Cys86Phe | |
| ENST00000636810.1:n.589G>T | ||
| ENST00000636831.1:n.427G>T | ||
| ENST00000636834.1:n.428G>T | ||
| ENST00000636901.1:c.209G>T | ENSP00000490145.1:p.Cys70Phe | |
| ENST00000636947.1:c.209G>T | ENSP00000490337.1:p.Cys70Phe | |
| ENST00000637132.1:c.170G>T | ENSP00000490651.1:p.Cys57Phe | |
| ENST00000637216.1:c.209G>T | ENSP00000490910.1:p.Cys70Phe | |
| ENST00000637217.1:c.170G>T | ENSP00000490250.1:p.Cys57Phe | |
| ENST00000637224.1:c.170G>T | ENSP00000490276.1:p.Cys57Phe | |
| ENST00000637232.1:c.170G>T | ENSP00000490138.1:p.Cys57Phe | |
| ENST00000637284.1:c.-248G>T | ENSP00000489787.1:n.-248G>T | |
| ENST00000637309.1:c.311G>T | ENSP00000490127.1:p.Cys104Phe | |
| ENST00000637312.1:c.209G>T | ENSP00000490144.1:p.Cys70Phe | |
| ENST00000637319.1:n.589G>T | ||
| ENST00000637330.1:c.*248G>T | ENSP00000490817.1:n.*248G>T | |
| ENST00000637418.1:c.165+2372G>T | ENSP00000489679.1:n.165+2372G>T | |
| ENST00000637436.1:c.*129G>T | ENSP00000489746.1:n.*129G>T | |
| ENST00000637491.1:c.209G>T | ENSP00000490510.1:p.Cys70Phe | |
| ENST00000637514.1:c.-248G>T | ENSP00000490304.1:n.-248G>T | |
| ENST00000637530.1:n.429G>T | ||
| ENST00000637535.1:c.209G>T | ENSP00000490891.1:p.Cys70Phe | |
| ENST00000637547.1:c.170G>T | ENSP00000490124.1:p.Cys57Phe | |
| ENST00000637550.1:c.209G>T | ENSP00000489943.1:p.Cys70Phe | |
| ENST00000637559.1:c.209G>T | ENSP00000489697.1:p.Cys70Phe | |
| ENST00000637622.1:n.589G>T | ||
| ENST00000637762.1:c.170G>T | ENSP00000489876.1:p.Cys57Phe | |
| ENST00000637765.1:n.429G>T | ||
| ENST00000637773.1:n.429G>T | ||
| ENST00000637779.1:c.209G>T | ENSP00000489732.1:p.Cys70Phe | |
| ENST00000637828.1:c.170G>T | ENSP00000490443.1:p.Cys57Phe | |
| ENST00000637913.1:n.296G>T | ||
| ENST00000637956.1:c.-248G>T | ENSP00000490298.1:n.-248G>T | |
| ENST00000638005.1:c.257G>T | ENSP00000489677.1:p.Cys86Phe | |
| ENST00000638040.1:c.170G>T | ENSP00000489883.1:p.Cys57Phe | |
| ENST00000638091.1:c.209G>T | ENSP00000489967.1:p.Cys70Phe | |
| ENST00000638150.1:c.209G>T | ENSP00000490501.1:p.Cys70Phe | |
| ENST00000201943.9:c.311G>T | ENSP00000201943.5:p.Cys104Phe | |
| ENST00000360283.10:c.209G>T | ENSP00000353425.7:p.Cys70Phe | |
| ENST00000397327.6:c.170G>T | ENSP00000380490.2:p.Cys57Phe | |
| ENST00000427385.5:c.257G>T | ENSP00000410978.1:p.Cys86Phe | |
| ENST00000434468.1:c.170G>T | ENSP00000399242.1:p.Cys57Phe | |
| ENST00000439467.5:c.296G>T | ENSP00000390161.1:p.Cys99Phe | |
| ENST00000470066.1:n.216G>T | ||
| ENST00000534999.5:c.209G>T | ENSP00000443893.1:p.Cys70Phe | |
| ENST00000539935.5:c.311G>T | ENSP00000438949.1:p.Cys104Phe | |
| NM_000726.3:c.311G>T | NP_000717.2:p.Cys104Phe | |
| NM_001005746.2:c.257G>T | NP_001005746.1:p.Cys86Phe | |
| NM_001005747.2:c.209G>T | NP_001005747.1:p.Cys70Phe | |
| NM_001145798.1:c.311G>T | NP_001139270.1:p.Cys104Phe | |
| XM_005246838.2:c.209G>T | XP_005246895.1:p.Cys70Phe | |
| XM_006712731.1:c.170G>T | XP_006712794.1:p.Cys57Phe | |
| XM_011511795.1:c.170G>T | XP_011510097.1:p.Cys57Phe | |
| XM_011511796.1:c.167G>T | XP_011510098.1:p.Cys56Phe | |
| XM_011511797.1:c.311G>T | XP_011510099.1:p.Cys104Phe | |
| XM_011511798.1:c.311G>T | XP_011510100.1:p.Cys104Phe | |
| XM_011511799.1:c.311G>T | XP_011510101.1:p.Cys104Phe | |
| XR_923022.1:n.1288G>T | ||
| XR_923023.1:n.1288G>T | ||
| NM_000726.4:c.311G>T | NP_000717.2:p.Cys104Phe | |
| NM_001005746.3:c.257G>T | NP_001005746.1:p.Cys86Phe | |
| NM_001005747.3:c.209G>T | NP_001005747.1:p.Cys70Phe | |
| NM_001145798.2:c.311G>T | NP_001139270.1:p.Cys104Phe | |
| NM_001320722.2:c.170G>T | NP_001307651.1:p.Cys57Phe | |
| NM_001330113.1:c.257G>T | NP_001317042.1:p.Cys86Phe | |
| NM_001330114.1:c.-324G>T | NP_001317043.1:n.-324G>T | |
| NM_001330115.1:c.209G>T | NP_001317044.1:p.Cys70Phe | |
| NM_001330116.1:c.170G>T | NP_001317045.1:p.Cys57Phe | |
| NM_001330117.1:c.-248G>T | NP_001317046.1:n.-248G>T | |
| NM_001330118.1:c.170G>T | NP_001317047.1:p.Cys57Phe | |
| XM_011511796.2:c.167G>T | XP_011510098.1:p.Cys56Phe | |
| XM_011511797.3:c.311G>T | XP_011510099.1:p.Cys104Phe | |
| XM_017004885.1:c.-324G>T | XP_016860374.1:n.-324G>T | |
| XM_017004888.2:c.257G>T | XP_016860377.1:p.Cys86Phe | |
| XM_024453128.1:c.-248G>T | XP_024308896.1:n.-248G>T | |
| XR_001738928.1:n.2097G>T | ||
| XR_001738935.1:n.448G>T | ||
| XR_001738937.2:n.589G>T | ||
| XR_001738938.2:n.589G>T | ||
| XR_001738939.1:n.448G>T | ||
| XR_001738940.2:n.589G>T | ||
| XR_002959337.1:n.464G>T | ||
| XR_002959338.1:n.589G>T | ||
| XR_923022.3:n.464G>T | ||
| NM_001005746.4:c.257G>T | NP_001005746.1:p.Cys86Phe | |
| NM_001005747.4:c.209G>T | NP_001005747.1:p.Cys70Phe | |
| NM_001320722.3:c.170G>T | NP_001307651.1:p.Cys57Phe | |
| NM_001330113.2:c.257G>T | NP_001317042.1:p.Cys86Phe | |
| NM_001330114.2:c.-324G>T | NP_001317043.1:n.-324G>T | |
| NM_001330115.2:c.209G>T | NP_001317044.1:p.Cys70Phe | |
| NM_001330116.2:c.170G>T | NP_001317045.1:p.Cys57Phe | |
| NM_001330117.2:c.-248G>T | NP_001317046.1:n.-248G>T | |
| NM_000726.5:c.311G>T MANE Select | NP_000717.2:p.Cys104Phe |