Linked Data
ClinVar Variation Id:
348626
ClinVar RCV Id:
RCV000345948
dbSNP Id:
rs770509235
gnomAD v2:
4-2837508-C-T
gnomAD v3:
4-2835781-C-T
gnomAD v4:
4-2835781-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2835781C>T , CM000666.2:g.2835781C>T | GRCh38 |
| NC_000004.11:g.2837508C>T , CM000666.1:g.2837508C>T | GRCh37 |
| NC_000004.10:g.2807306C>T | NCBI36 |
| NG_011609.1:g.47759C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435136.8:c.*1947C>T | ENSP00000403231.3:n.*1947C>T | |
| ENST00000503393.8:c.*1947C>T MANE Select | ENSP00000422168.3:n.*1947C>T | |
| ENST00000356331.9:c.*1947C>T | ENSP00000348685.5:n.*1947C>T | |
| ENST00000442312.6:c.*1947C>T | ENSP00000388152.2:n.*1947C>T | |
| ENST00000503393.6:c.*1947C>T | ENSP00000422168.2:n.*1947C>T | |
| NM_001122681.1:c.*1947C>T | NP_001116153.1:n.*1947C>T | |
| NM_001145855.1:c.*1947C>T | NP_001139327.1:n.*1947C>T | |
| NM_001145856.1:c.*1947C>T | NP_001139328.1:n.*1947C>T | |
| NM_003023.4:c.*1947C>T | NP_003014.3:n.*1947C>T | |
| XM_005247998.3:c.*1947C>T | XP_005248055.1:n.*1947C>T | |
| XM_005247999.3:c.*1947C>T | XP_005248056.1:n.*1947C>T | |
| XM_011513547.1:c.*1947C>T | XP_011511849.1:n.*1947C>T | |
| XM_011513548.1:c.*2116C>T | XP_011511850.1:n.*2116C>T | |
| XM_011513549.1:c.*1947C>T | XP_011511851.1:n.*1947C>T | |
| XM_011513550.1:c.*1947C>T | XP_011511852.1:n.*1947C>T | |
| XM_011513551.1:c.*2116C>T | XP_011511853.1:n.*2116C>T | |
| XM_011513552.1:c.*1947C>T | XP_011511854.1:n.*1947C>T | |
| XM_011513553.1:c.*1947C>T | XP_011511855.1:n.*1947C>T | |
| XM_011513554.1:c.*1947C>T | XP_011511856.1:n.*1947C>T | |
| XM_011513555.1:c.*2108C>T | XP_011511857.1:n.*2108C>T | |
| XM_011513556.1:c.*2108C>T | XP_011511858.1:n.*2108C>T | |
| XR_924990.1:n.3706C>T | ||
| NM_001122681.2:c.*1947C>T MANE Select | NP_001116153.1:n.*1947C>T | |
| NM_001145855.2:c.*1947C>T | NP_001139327.1:n.*1947C>T | |
| NM_001145856.2:c.*1947C>T | NP_001139328.1:n.*1947C>T |