Linked Data
ClinVar Variation Id:
302489
ClinVar RCV Id:
RCV000386295
dbSNP Id:
rs200753024
gnomAD v2:
11-111966063-A-G
gnomAD v3:
11-112095339-A-G
gnomAD v4:
11-112095339-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112095339A>G , CM000673.2:g.112095339A>G | GRCh38 |
| NC_000011.9:g.111966063A>G , CM000673.1:g.111966063A>G | GRCh37 |
| NC_000011.8:g.111471273A>G | NCBI36 |
| NG_012337.2:g.13493A>G | |
| NG_012337.3:g.13493A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534010.2:c.314+6328A>G | ENSP00000433202.2:n.314+6328A>G | |
| ENST00000375549.8:c.*369A>G MANE Select | ENSP00000364699.3:n.*369A>G | |
| ENST00000528021.6:c.314+6328A>G | ENSP00000432465.1:n.314+6328A>G | |
| ENST00000375549.7:c.*369A>G | ENSP00000364699.3:n.*369A>G | |
| ENST00000525291.5:c.*369A>G | ENSP00000436669.1:n.*369A>G | |
| ENST00000525987.5:n.319+6328A>G | ||
| ENST00000528021.5:c.314+6328A>G | ENSP00000432465.1:n.314+6328A>G | |
| ENST00000528048.5:c.*446A>G | ENSP00000436217.1:n.*446A>G | |
| ENST00000531744.5:c.314+6328A>G | ENSP00000456957.1:n.314+6328A>G | |
| ENST00000532699.1:c.314+6328A>G | ENSP00000456434.1:n.314+6328A>G | |
| ENST00000534010.1:c.145+6328A>G | ||
| NM_001276503.1:c.*446A>G | NP_001263432.1:n.*446A>G | |
| NM_001276504.1:c.*369A>G | NP_001263433.1:n.*369A>G | |
| NM_001276506.1:c.*547A>G | NP_001263435.1:n.*547A>G | |
| NM_003002.3:c.*369A>G | NP_002993.1:n.*369A>G | |
| NR_077060.1:n.987A>G | ||
| NM_003002.4:c.*369A>G MANE Select | NP_002993.1:n.*369A>G | |
| NM_001276503.2:c.*446A>G | NP_001263432.1:n.*446A>G | |
| NM_001276504.2:c.*369A>G | NP_001263433.1:n.*369A>G | |
| NM_001276506.2:c.*547A>G | NP_001263435.1:n.*547A>G | |
| NR_077060.2:n.938A>G |