Linked Data
dbSNP Id:
rs1400535971
gnomAD v2:
19-10463190-A-G
gnomAD v3:
19-10352514-A-G
gnomAD v4:
19-10352514-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10352514A>G , CM000681.2:g.10352514A>G | GRCh38 |
| NC_000019.9:g.10463190A>G , CM000681.1:g.10463190A>G | GRCh37 |
| NC_000019.8:g.10324190A>G | NCBI36 |
| NG_007872.1:g.33059T>C , LRG_121:g.33059T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*1587T>C | ENSP00000514307.1:n.*1587T>C | |
| ENST00000525976.6:c.3238T>C | ENSP00000434831.2:p.Tyr1080His | |
| ENST00000527481.3:c.*8T>C | ENSP00000466340.2:n.*8T>C | |
| ENST00000529370.6:n.4614T>C | ||
| ENST00000529739.2:n.4047T>C | ||
| ENST00000530829.2:c.*2789T>C | ENSP00000436826.2:n.*2789T>C | |
| ENST00000531836.6:c.3238T>C | ENSP00000436175.2:p.Tyr1080His | |
| ENST00000533334.2:c.*1242+412T>C | ENSP00000432320.2:n.*1242+412T>C | |
| ENST00000534228.2:n.5054+412T>C | ||
| ENST00000699354.1:n.1340T>C | ||
| ENST00000699355.1:c.*2738T>C | ENSP00000514328.1:n.*2738T>C | |
| ENST00000699356.1:n.4047T>C | ||
| ENST00000699357.1:n.5092T>C | ||
| ENST00000699358.1:c.3200+412T>C | ENSP00000514329.1:n.3200+412T>C | |
| ENST00000699359.1:c.412T>C | ||
| ENST00000699360.1:c.3196T>C | ENSP00000514331.1:p.Tyr1066His | |
| ENST00000699361.1:n.272T>C | ||
| ENST00000699362.1:c.134T>C | ENSP00000514332.1:n.134T>C | |
| ENST00000699363.1:c.134T>C | ENSP00000514333.1:n.134T>C | |
| ENST00000699364.1:n.238T>C | ||
| ENST00000699365.1:c.307T>C | ENSP00000514334.1:p.Tyr103His | |
| ENST00000699366.1:n.111+1300T>C | ||
| ENST00000699367.1:n.111+1300T>C | ||
| ENST00000699368.1:c.725T>C | ENSP00000514335.1:n.725T>C | |
| ENST00000525621.6:c.3238T>C MANE Select | ENSP00000431885.1:p.Tyr1080His | |
| ENST00000264818.10:c.3238T>C | ENSP00000264818.6:p.Tyr1080His | |
| ENST00000524462.5:c.2683T>C | ENSP00000433203.1:p.Tyr895His | |
| ENST00000525621.5:c.3238T>C | ENSP00000431885.1:p.Tyr1080His | |
| ENST00000527481.2:c.415T>C | ||
| ENST00000529422.1:n.116+508T>C | ||
| ENST00000529739.1:c.307T>C | ENSP00000436155.1:p.Tyr103His | |
| ENST00000530220.1:n.331+412T>C | ||
| ENST00000530560.5:c.337+1528T>C | ENSP00000465291.1:n.337+1528T>C | |
| ENST00000592137.1:n.392T>C | ||
| NM_003331.4:c.3238T>C , LRG_121t1:c.3238T>C | NP_003322.3:p.Tyr1080His | |
| XM_011528245.1:c.3238T>C | XP_011526547.1:p.Tyr1080His | |
| XM_011528246.1:c.2941T>C | XP_011526548.1:p.Tyr981His | |
| XM_011528247.1:c.2941T>C | XP_011526549.1:p.Tyr981His | |
| XM_011528248.1:c.3200+412T>C | XP_011526550.1:n.3200+412T>C | |
| XM_011528249.1:c.1912T>C | XP_011526551.1:p.Tyr638His | |
| XM_011528251.1:c.1495T>C | XP_011526553.1:p.Tyr499His | |
| XM_011528246.3:c.2941T>C | XP_011526548.1:p.Tyr981His | |
| XM_011528249.2:c.1912T>C | XP_011526551.1:p.Tyr638His | |
| XR_001753750.1:n.3357+412T>C | ||
| XR_001753751.1:n.3790T>C | ||
| XR_002958353.1:n.4716T>C | ||
| NM_003331.5:c.3238T>C MANE Select | NP_003322.3:p.Tyr1080His | |
| NM_001385197.1:c.3238T>C | NP_001372126.1:p.Tyr1080His | |
| NM_001385198.1:c.3168+444T>C | NP_001372127.1:n.3168+444T>C | |
| NM_001385199.1:c.3052T>C | NP_001372128.1:p.Tyr1018His | |
| NM_001385200.1:c.3235T>C | NP_001372129.1:p.Tyr1079His | |
| NM_001385201.1:c.3040T>C | NP_001372130.1:p.Tyr1014His | |
| NM_001385202.1:c.3154T>C | NP_001372131.1:p.Tyr1052His | |
| NM_001385203.1:c.3319T>C | NP_001372132.1:p.Tyr1107His | |
| NM_001385204.1:c.3448T>C | NP_001372133.1:p.Tyr1150His | |
| NM_001385205.1:c.3148T>C | NP_001372134.1:p.Tyr1050His | |
| NM_001385206.1:c.3112T>C | NP_001372135.1:p.Tyr1038His | |
| NM_001385207.1:c.3220T>C | NP_001372136.1:p.Tyr1074His |