Linked Data
ClinVar Variation Id:
402355
ClinVar RCV Id:
RCV000456100
dbSNP Id:
rs1045885332
gnomAD v2:
1-33476435-C-A
gnomAD v3:
1-33010834-C-A
gnomAD v4:
1-33010834-C-A
COSMIC:
COSM3705788
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.33010834C>A , CM000663.2:g.33010834C>A | GRCh38 |
| NC_000001.10:g.33476435C>A , CM000663.1:g.33476435C>A | GRCh37 |
| NC_000001.9:g.33249022C>A | NCBI36 |
| NG_016269.1:g.31058G>T , LRG_133:g.31058G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000469238.2:n.4219G>T | ||
| ENST00000491241.2:c.*996-1G>T | ENSP00000512049.1:n.*996-1G>T | |
| ENST00000550338.6:c.*684-1G>T | ENSP00000450008.1:n.*684-1G>T | |
| ENST00000695598.1:n.4206G>T | ||
| ENST00000695599.1:c.*5577-1G>T | ENSP00000512046.1:n.*5577-1G>T | |
| ENST00000695600.1:n.4381G>T | ||
| ENST00000695601.1:c.*733-1G>T | ENSP00000512047.1:n.*733-1G>T | |
| ENST00000695602.1:c.*2443-1G>T | ENSP00000512048.1:n.*2443-1G>T | |
| ENST00000695603.1:n.2980-1G>T | ||
| ENST00000695604.1:c.*1634-1G>T | ENSP00000512050.1:n.*1634-1G>T | |
| ENST00000354858.11:c.*2347G>T | ENSP00000346921.7:n.*2347G>T | |
| ENST00000373449.7:c.695-1G>T | ENSP00000362548.2:n.695-1G>T | |
| ENST00000672308.1:n.2126-1G>T | ||
| ENST00000672715.1:c.*2347G>T MANE Select | ENSP00000499935.1:n.*2347G>T | |
| ENST00000373449.6:c.695-1G>T | ENSP00000362548.2:n.695-1G>T | |
| ENST00000467905.5:c.*45-1G>T | ENSP00000447082.1:n.*45-1G>T | |
| ENST00000482191.1:n.285-1G>T | ||
| ENST00000491241.1:n.394-1G>T | ||
| ENST00000548033.5:c.569-1G>T | ENSP00000449003.1:n.569-1G>T | |
| ENST00000629371.2:c.*198-1G>T | ENSP00000486507.1:n.*198-1G>T | |
| NM_001199199.1:c.671-1G>T | NP_001186128.1:n.671-1G>T | |
| NM_013411.4:c.695-1G>T | NP_037543.1:n.695-1G>T | |
| NR_037591.1:n.896-1G>T | ||
| XR_246248.1:n.1868-1G>T | ||
| XR_946575.1:n.640-1G>T | ||
| NM_001319139.1:c.551-1G>T | NP_001306068.1:n.551-1G>T | |
| NM_001319141.1:c.*45-1G>T | NP_001306070.1:n.*45-1G>T | |
| NM_001319142.1:c.569-1G>T | NP_001306071.1:n.569-1G>T | |
| NR_134976.1:n.683-1G>T | ||
| XR_001737036.1:n.1773-1G>T | ||
| XR_246248.2:n.1868-1G>T | ||
| NM_001199199.2:c.671-1G>T | NP_001186128.1:n.671-1G>T | |
| NM_001319139.2:c.551-1G>T | NP_001306068.1:n.551-1G>T | |
| NM_001319141.2:c.*45-1G>T | NP_001306070.1:n.*45-1G>T | |
| NM_001319142.2:c.569-1G>T | NP_001306071.1:n.569-1G>T | |
| NM_001625.4:c.*2347G>T MANE Select | NP_001616.1:n.*2347G>T | |
| NM_013411.5:c.695-1G>T | NP_037543.1:n.695-1G>T | |
| NR_134976.2:n.655-1G>T | ||
| NM_001199199.3:c.671-1G>T | NP_001186128.1:n.671-1G>T | |
| NM_001319139.3:c.551-1G>T | NP_001306068.1:n.551-1G>T | |
| NM_001319140.2:c.*2347G>T | NP_001306069.1:n.*2347G>T | |
| NM_001319141.3:c.*45-1G>T | NP_001306070.1:n.*45-1G>T | |
| NM_001319142.3:c.569-1G>T | NP_001306071.1:n.569-1G>T | |
| NM_001319143.2:c.*2570G>T | NP_001306072.1:n.*2570G>T | |
| NR_134976.3:n.655-1G>T |