Linked Data
ClinVar Variation Id:
337061
dbSNP Id:
rs756362040
ExAC:
2:74588375 A / C
gnomAD v2:
2-74588375-A-C
gnomAD v3:
2-74361248-A-C
gnomAD v4:
2-74361248-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74361248A>C , CM000664.2:g.74361248A>C | GRCh38 |
| NC_000002.11:g.74588375A>C , CM000664.1:g.74588375A>C | GRCh37 |
| NC_000002.10:g.74441883A>C | NCBI36 |
| NG_008735.2:g.35840T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.*251T>G | ENSP00000354791.4:n.*251T>G | |
| ENST00000628224.3:c.*251T>G MANE Select | ENSP00000487279.2:n.*251T>G | |
| ENST00000680606.1:c.*251T>G | ENSP00000505612.1:n.*251T>G | |
| ENST00000361874.7:c.*251T>G | ENSP00000354791.3:n.*251T>G | |
| ENST00000394003.7:c.*251T>G | ENSP00000377571.3:n.*251T>G | |
| ENST00000409240.5:c.*251T>G | ENSP00000386406.1:n.*251T>G | |
| ENST00000409438.5:c.*251T>G | ENSP00000387270.1:n.*251T>G | |
| ENST00000409868.5:c.*251T>G | ENSP00000387327.1:n.*251T>G | |
| ENST00000434055.5:c.*1372T>G | ENSP00000416711.1:n.*1372T>G | |
| ENST00000451608.2:c.663-92T>G | ENSP00000416453.2:n.663-92T>G | |
| ENST00000466110.5:n.5325T>G | ||
| ENST00000491465.5:n.2351T>G | ||
| ENST00000497666.1:n.386T>G | ||
| ENST00000628224.2:c.*251T>G | ENSP00000487279.1:n.*251T>G | |
| ENST00000633691.1:c.*251T>G | ENSP00000487724.1:n.*251T>G | |
| NM_001135040.2:c.*251T>G | NP_001128512.1:n.*251T>G | |
| NM_001135041.2:c.*251T>G | NP_001128513.1:n.*251T>G | |
| NM_001190836.1:c.*251T>G | NP_001177765.1:n.*251T>G | |
| NM_001190837.1:c.*251T>G | NP_001177766.1:n.*251T>G | |
| NM_004082.4:c.*251T>G | NP_004073.2:n.*251T>G | |
| NM_023019.3:c.*251T>G | NP_075408.1:n.*251T>G | |
| NR_033935.1:n.4357T>G | ||
| NM_001135040.3:c.*251T>G | NP_001128512.1:n.*251T>G | |
| NM_001135041.3:c.*251T>G | NP_001128513.1:n.*251T>G | |
| NM_001190836.2:c.*251T>G | NP_001177765.1:n.*251T>G | |
| NM_001190837.2:c.*251T>G | NP_001177766.1:n.*251T>G | |
| NM_001378991.1:c.*251T>G | NP_001365920.1:n.*251T>G | |
| NM_001378992.1:c.*251T>G | NP_001365921.1:n.*251T>G | |
| NM_004082.5:c.*251T>G MANE Select | NP_004073.2:n.*251T>G | |
| NM_023019.4:c.*251T>G | NP_075408.1:n.*251T>G | |
| NR_033935.2:n.4136T>G |