Linked Data
ClinVar Variation Id:
1971135
ClinVar RCV Id:
RCV002735796
dbSNP Id:
rs1488791465
gnomAD v2:
19-10463213-C-A
gnomAD v4:
19-10352537-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10352537C>A , CM000681.2:g.10352537C>A | GRCh38 |
| NC_000019.9:g.10463213C>A , CM000681.1:g.10463213C>A | GRCh37 |
| NC_000019.8:g.10324213C>A | NCBI36 |
| NG_007872.1:g.33036G>T , LRG_121:g.33036G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*1564G>T | ENSP00000514307.1:n.*1564G>T | |
| ENST00000525976.6:c.3215G>T | ENSP00000434831.2:p.Cys1072Phe | |
| ENST00000527481.3:c.3096G>T | ENSP00000466340.2:p.Val1032= | |
| ENST00000529370.6:n.4591G>T | ||
| ENST00000529739.2:n.4024G>T | ||
| ENST00000530829.2:c.*2766G>T | ENSP00000436826.2:n.*2766G>T | |
| ENST00000531836.6:c.3215G>T | ENSP00000436175.2:p.Cys1072Phe | |
| ENST00000533334.2:c.*1242+389G>T | ENSP00000432320.2:n.*1242+389G>T | |
| ENST00000534228.2:n.5054+389G>T | ||
| ENST00000699354.1:n.1317G>T | ||
| ENST00000699355.1:c.*2715G>T | ENSP00000514328.1:n.*2715G>T | |
| ENST00000699356.1:n.4024G>T | ||
| ENST00000699357.1:n.5069G>T | ||
| ENST00000699358.1:c.3200+389G>T | ENSP00000514329.1:n.3200+389G>T | |
| ENST00000699359.1:c.389G>T | ||
| ENST00000699360.1:c.3173G>T | ENSP00000514331.1:p.Cys1058Phe | |
| ENST00000699361.1:n.249G>T | ||
| ENST00000699362.1:c.111G>T | ENSP00000514332.1:p.Val37= | |
| ENST00000699363.1:c.111G>T | ENSP00000514333.1:p.Val37= | |
| ENST00000699364.1:n.215G>T | ||
| ENST00000699365.1:c.284G>T | ENSP00000514334.1:p.Cys95Phe | |
| ENST00000699366.1:n.111+1277G>T | ||
| ENST00000699367.1:n.111+1277G>T | ||
| ENST00000699368.1:c.702G>T | ENSP00000514335.1:n.702G>T | |
| ENST00000525621.6:c.3215G>T MANE Select | ENSP00000431885.1:p.Cys1072Phe | |
| ENST00000264818.10:c.3215G>T | ENSP00000264818.6:p.Cys1072Phe | |
| ENST00000524462.5:c.2660G>T | ENSP00000433203.1:p.Cys887Phe | |
| ENST00000525621.5:c.3215G>T | ENSP00000431885.1:p.Cys1072Phe | |
| ENST00000527481.2:c.392G>T | ||
| ENST00000529422.1:n.116+485G>T | ||
| ENST00000529739.1:c.284G>T | ENSP00000436155.1:p.Cys95Phe | |
| ENST00000530220.1:n.331+389G>T | ||
| ENST00000530560.5:c.337+1505G>T | ENSP00000465291.1:n.337+1505G>T | |
| ENST00000592137.1:n.369G>T | ||
| NM_003331.4:c.3215G>T , LRG_121t1:c.3215G>T | NP_003322.3:p.Cys1072Phe | |
| XM_011528245.1:c.3215G>T | XP_011526547.1:p.Cys1072Phe | |
| XM_011528246.1:c.2918G>T | XP_011526548.1:p.Cys973Phe | |
| XM_011528247.1:c.2918G>T | XP_011526549.1:p.Cys973Phe | |
| XM_011528248.1:c.3200+389G>T | XP_011526550.1:n.3200+389G>T | |
| XM_011528249.1:c.1889G>T | XP_011526551.1:p.Cys630Phe | |
| XM_011528251.1:c.1472G>T | XP_011526553.1:p.Cys491Phe | |
| XM_011528246.3:c.2918G>T | XP_011526548.1:p.Cys973Phe | |
| XM_011528249.2:c.1889G>T | XP_011526551.1:p.Cys630Phe | |
| XR_001753750.1:n.3357+389G>T | ||
| XR_001753751.1:n.3767G>T | ||
| XR_002958353.1:n.4693G>T | ||
| NM_003331.5:c.3215G>T MANE Select | NP_003322.3:p.Cys1072Phe | |
| NM_001385197.1:c.3215G>T | NP_001372126.1:p.Cys1072Phe | |
| NM_001385198.1:c.3168+421G>T | NP_001372127.1:n.3168+421G>T | |
| NM_001385199.1:c.3029G>T | NP_001372128.1:p.Cys1010Phe | |
| NM_001385200.1:c.3212G>T | NP_001372129.1:p.Cys1071Phe | |
| NM_001385201.1:c.3017G>T | NP_001372130.1:p.Cys1006Phe | |
| NM_001385202.1:c.3131G>T | NP_001372131.1:p.Cys1044Phe | |
| NM_001385203.1:c.3296G>T | NP_001372132.1:p.Cys1099Phe | |
| NM_001385204.1:c.3425G>T | NP_001372133.1:p.Cys1142Phe | |
| NM_001385205.1:c.3125G>T | NP_001372134.1:p.Cys1042Phe | |
| NM_001385206.1:c.3089G>T | NP_001372135.1:p.Cys1030Phe | |
| NM_001385207.1:c.3197G>T | NP_001372136.1:p.Cys1066Phe |