Linked Data
ClinVar Variation Id:
194304
dbSNP Id:
rs794727110
gnomAD v2:
6-152469289-A-G
gnomAD v3:
6-152148154-A-G
gnomAD v4:
6-152148154-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152148154A>G , CM000668.2:g.152148154A>G | GRCh38 |
| NC_000006.11:g.152469289A>G , CM000668.1:g.152469289A>G | GRCh37 |
| NC_000006.10:g.152510982A>G | NCBI36 |
| NG_012855.1:g.494246T>C | |
| NG_012855.2:g.494246T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1332T>C MANE Plus Clinical | ENSP00000346701.4:p.Tyr444= | |
| ENST00000367255.10:c.24867T>C MANE Select | ENSP00000356224.5:p.Tyr8289= | |
| ENST00000423061.6:c.24654T>C | ENSP00000396024.1:p.Tyr8218= | |
| ENST00000672154.1:c.269T>C | ||
| ENST00000672169.1:c.602T>C | ||
| ENST00000673173.1:c.781T>C | ||
| ENST00000673451.1:c.639T>C | ENSP00000500189.1:p.Tyr213= | |
| ENST00000341594.9:c.23652T>C | ENSP00000341887.6:p.Tyr7884= | |
| ENST00000347037.9:n.1546T>C | ||
| ENST00000354674.4:c.1332T>C | ENSP00000346701.4:p.Tyr444= | |
| ENST00000367251.7:c.3633T>C | ENSP00000356220.3:p.Tyr1211= | |
| ENST00000367255.9:c.24867T>C | ENSP00000356224.5:p.Tyr8289= | |
| ENST00000367256.9:n.8559T>C | ||
| ENST00000367257.8:c.2805T>C | ENSP00000356226.4:p.Tyr935= | |
| ENST00000409694.6:n.8451T>C | ||
| ENST00000423061.5:c.24654T>C | ENSP00000396024.1:p.Tyr8218= | |
| ENST00000460912.6:n.1412T>C | ||
| ENST00000472563.2:n.255T>C | ||
| ENST00000536990.5:n.1704T>C | ||
| ENST00000539504.5:c.1332T>C | ENSP00000441052.1:p.Tyr444= | |
| NM_033071.3:c.24654T>C | NP_149062.1:p.Tyr8218= | |
| NM_182961.3:c.24867T>C | NP_892006.3:p.Tyr8289= | |
| XM_006715407.1:c.24903T>C | XP_006715470.1:p.Tyr8301= | |
| XM_006715408.1:c.24891T>C | XP_006715471.1:p.Tyr8297= | |
| XM_006715409.1:c.24882T>C | XP_006715472.1:p.Tyr8294= | |
| XM_006715410.1:c.24903T>C | XP_006715473.1:p.Tyr8301= | |
| XM_006715411.1:c.24852T>C | XP_006715474.1:p.Tyr8284= | |
| XM_006715412.1:c.24888T>C | XP_006715475.1:p.Tyr8296= | |
| XM_006715413.1:c.24903T>C | XP_006715476.1:p.Tyr8301= | |
| XM_006715414.1:c.24831T>C | XP_006715477.1:p.Tyr8277= | |
| XM_006715415.1:c.24903T>C | XP_006715478.1:p.Tyr8301= | |
| XM_006715416.1:c.24888T>C | XP_006715479.1:p.Tyr8296= | |
| XM_006715417.1:c.24762T>C | XP_006715480.1:p.Tyr8254= | |
| XM_006715420.1:c.24750T>C | XP_006715483.1:p.Tyr8250= | |
| XM_006715421.1:c.24747T>C | XP_006715484.1:p.Tyr8249= | |
| XM_006715422.1:c.24744T>C | XP_006715485.1:p.Tyr8248= | |
| XM_006715423.1:c.24903T>C | XP_006715486.1:p.Tyr8301= | |
| XM_006715424.1:c.24903T>C | XP_006715487.1:p.Tyr8301= | |
| XM_006715425.1:c.24903T>C | XP_006715488.1:p.Tyr8301= | |
| XM_011535641.1:c.24900T>C | XP_011533943.1:p.Tyr8300= | |
| XM_011535642.1:c.24888T>C | XP_011533944.1:p.Tyr8296= | |
| XM_011535643.1:c.24738T>C | XP_011533945.1:p.Tyr8246= | |
| XM_011535644.1:c.23178T>C | XP_011533946.1:p.Tyr7726= | |
| XM_011535645.1:c.22671T>C | XP_011533947.1:p.Tyr7557= | |
| XM_011535647.1:c.18138T>C | XP_011533949.1:p.Tyr6046= | |
| NM_001347701.1:c.1473T>C | NP_001334630.1:p.Tyr491= | |
| NM_001347702.1:c.1332T>C | NP_001334631.1:p.Tyr444= | |
| XM_006715408.2:c.24891T>C | XP_006715471.1:p.Tyr8297= | |
| XM_006715410.2:c.24903T>C | XP_006715473.1:p.Tyr8301= | |
| XM_006715412.2:c.24888T>C | XP_006715475.1:p.Tyr8296= | |
| XM_006715413.2:c.24903T>C | XP_006715476.1:p.Tyr8301= | |
| XM_006715415.2:c.24903T>C | XP_006715478.1:p.Tyr8301= | |
| XM_006715416.2:c.24888T>C | XP_006715479.1:p.Tyr8296= | |
| XM_006715417.2:c.24762T>C | XP_006715480.1:p.Tyr8254= | |
| XM_006715420.2:c.24750T>C | XP_006715483.1:p.Tyr8250= | |
| XM_006715421.2:c.24747T>C | XP_006715484.1:p.Tyr8249= | |
| XM_006715423.2:c.24903T>C | XP_006715486.1:p.Tyr8301= | |
| XM_006715424.2:c.24903T>C | XP_006715487.1:p.Tyr8301= | |
| XM_006715425.2:c.24903T>C | XP_006715488.1:p.Tyr8301= | |
| XM_011535641.2:c.24900T>C | XP_011533943.1:p.Tyr8300= | |
| XM_011535642.2:c.24888T>C | XP_011533944.1:p.Tyr8296= | |
| XM_011535645.2:c.22671T>C | XP_011533947.1:p.Tyr7557= | |
| XM_017010608.1:c.24903T>C | XP_016866097.1:p.Tyr8301= | |
| XM_017010609.1:c.24903T>C | XP_016866098.1:p.Tyr8301= | |
| XM_017010610.1:c.24882T>C | XP_016866099.1:p.Tyr8294= | |
| XM_017010611.2:c.24876T>C | XP_016866100.1:p.Tyr8292= | |
| XM_017010612.1:c.24825T>C | XP_016866101.1:p.Tyr8275= | |
| XM_017010613.1:c.24900T>C | XP_016866102.1:p.Tyr8300= | |
| XM_017010614.1:c.24747T>C | XP_016866103.1:p.Tyr8249= | |
| XM_017010615.1:c.24747T>C | XP_016866104.1:p.Tyr8249= | |
| XM_017010616.1:c.24903T>C | XP_016866105.1:p.Tyr8301= | |
| XM_017010617.1:c.24900T>C | XP_016866106.1:p.Tyr8300= | |
| XM_017010618.1:c.24888T>C | XP_016866107.1:p.Tyr8296= | |
| XM_017010619.1:c.23178T>C | XP_016866108.1:p.Tyr7726= | |
| NM_182961.4:c.24867T>C MANE Select | NP_892006.3:p.Tyr8289= | |
| NM_001347701.2:c.1473T>C | NP_001334630.1:p.Tyr491= | |
| NM_001347702.2:c.1332T>C MANE Plus Clinical | NP_001334631.1:p.Tyr444= | |
| NM_033071.5:c.24654T>C | NP_149062.2:p.Tyr8218= |