Linked Data
ClinVar Variation Id:
1183006
ClinVar RCV Id:
RCV001540761
dbSNP Id:
rs4930127
gnomAD v2:
11-2593977-A-G
gnomAD v3:
11-2572747-A-G
gnomAD v4:
11-2572747-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572747A>G , CM000673.2:g.2572747A>G | GRCh38 |
| NC_000011.9:g.2593977A>G , CM000673.1:g.2593977A>G | GRCh37 |
| NC_000011.8:g.2550553A>G | NCBI36 |
| NG_008935.1:g.132757A>G , LRG_287:g.132757A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.520-99A>G | ENSP00000434560.2:n.520-99A>G | |
| ENST00000646564.2:c.478-10688A>G | ENSP00000495806.2:n.478-10688A>G | |
| ENST00000155840.12:c.781-99A>G MANE Select | ENSP00000155840.2:n.781-99A>G | |
| ENST00000335475.6:c.400-99A>G | ENSP00000334497.5:n.400-99A>G | |
| ENST00000646564.1:c.124-10688A>G | ENSP00000495806.1:n.124-10688A>G | |
| ENST00000155840.9:c.781-99A>G | ENSP00000155840.2:n.781-99A>G | |
| ENST00000335475.5:c.400-99A>G | ENSP00000334497.5:n.400-99A>G | |
| ENST00000496887.6:c.520-99A>G | ENSP00000434560.1:n.520-99A>G | |
| NM_000218.2:c.781-99A>G , LRG_287t1:c.781-99A>G | NP_000209.2:n.781-99A>G | |
| NM_181798.1:c.400-99A>G , LRG_287t2:c.400-99A>G | NP_861463.1:n.400-99A>G | |
| NM_000218.3:c.781-99A>G MANE Select | NP_000209.2:n.781-99A>G |