Linked Data
ClinVar Variation Id:
1954818
ClinVar RCV Id:
RCV002690219
dbSNP Id:
rs1050609516
gnomAD v2:
3-195778948-C-T
gnomAD v3:
3-196052077-C-T
gnomAD v4:
3-196052077-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196052077C>T , CM000665.2:g.196052077C>T | GRCh38 |
| NC_000003.11:g.195778948C>T , CM000665.1:g.195778948C>T | GRCh37 |
| NC_000003.10:g.197263345C>T | NCBI36 |
| NG_046395.1:g.35085G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426789.6:n.2111+1341G>A | ||
| ENST00000475593.6:n.3796G>A | ||
| ENST00000477148.2:n.3588G>A | ||
| ENST00000483983.6:n.1154G>A | ||
| ENST00000491658.2:n.2336G>A | ||
| ENST00000698274.1:c.2040+1341G>A | ENSP00000513645.1:n.2040+1341G>A | |
| ENST00000698275.1:n.2216+1341G>A | ||
| ENST00000698276.1:n.1030G>A | ||
| ENST00000698277.1:n.1838G>A | ||
| ENST00000698278.1:n.1667G>A | ||
| ENST00000698279.1:n.1643G>A | ||
| ENST00000698280.1:c.2148G>A | ENSP00000513646.1:p.Leu716= | |
| ENST00000698281.1:c.*1811G>A | ENSP00000513647.1:n.*1811G>A | |
| ENST00000698282.1:c.*1397G>A | ENSP00000513648.1:n.*1397G>A | |
| ENST00000698283.1:c.2253G>A | ENSP00000513649.1:p.Leu751= | |
| ENST00000698284.1:n.2496G>A | ||
| ENST00000698285.1:c.1302G>A | ENSP00000513650.1:p.Leu434= | |
| ENST00000698286.1:c.1302G>A | ENSP00000513651.1:p.Leu434= | |
| ENST00000698287.1:n.2639G>A | ||
| ENST00000698288.1:c.*1397G>A | ENSP00000513652.1:n.*1397G>A | |
| ENST00000698289.1:n.3211G>A | ||
| ENST00000698290.1:c.1926G>A | ENSP00000513653.1:p.Leu642= | |
| ENST00000698291.1:c.2148G>A | ENSP00000513654.1:p.Leu716= | |
| ENST00000698292.1:n.4083G>A | ||
| ENST00000698293.1:n.2490G>A | ||
| ENST00000698294.1:c.1487G>A | ||
| ENST00000360110.9:c.2148G>A MANE Select | ENSP00000353224.4:p.Leu716= | |
| ENST00000360110.8:c.2148G>A | ENSP00000353224.4:p.Leu716= | |
| ENST00000392396.7:c.2148G>A | ENSP00000376197.3:p.Leu716= | |
| ENST00000420415.5:c.1905G>A | ENSP00000390133.1:p.Leu635= | |
| ENST00000426789.5:c.276+1341G>A | ENSP00000414015.1:n.276+1341G>A | |
| NM_001128148.1:c.2148G>A | NP_001121620.1:p.Leu716= | |
| NM_001128148.2:c.2148G>A | NP_001121620.1:p.Leu716= | |
| NM_001313965.1:c.1905G>A | NP_001300894.1:p.Leu635= | |
| NM_001313966.1:c.1302G>A | NP_001300895.1:p.Leu434= | |
| NM_003234.2:c.2148G>A | NP_003225.2:p.Leu716= | |
| NM_003234.3:c.2148G>A | NP_003225.2:p.Leu716= | |
| XM_024453731.1:c.2040+1341G>A | XP_024309499.1:n.2040+1341G>A | |
| XM_024453732.1:c.2040+1341G>A | XP_024309500.1:n.2040+1341G>A | |
| XR_002959575.1:n.2144+1341G>A | ||
| XR_002959576.1:n.2144+1341G>A | ||
| XR_002959577.1:n.2144+1341G>A | ||
| XR_002959578.1:n.2144+1341G>A | ||
| NM_001128148.3:c.2148G>A MANE Select | NP_001121620.1:p.Leu716= | |
| NM_001313965.2:c.1905G>A | NP_001300894.1:p.Leu635= | |
| NM_001313966.2:c.1302G>A | NP_001300895.1:p.Leu434= | |
| NM_003234.4:c.2148G>A | NP_003225.2:p.Leu716= |