Linked Data
ClinVar Variation Id:
301469
ClinVar RCV Id:
RCV000312947
dbSNP Id:
rs886047430
gnomAD v2:
10-89726820-A-G
gnomAD v3:
10-87967063-A-G
gnomAD v4:
10-87967063-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87967063A>G , CM000672.2:g.87967063A>G | GRCh38 |
| NC_000010.10:g.89726820A>G , CM000672.1:g.89726820A>G | GRCh37 |
| NC_000010.9:g.89716800A>G | NCBI36 |
| NG_007466.2:g.108625A>G , LRG_311:g.108625A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710265.1:c.*1832A>G | ENSP00000518161.1:n.*1832A>G | |
| ENST00000688158.2:n.3538A>G | ||
| ENST00000706954.1:c.*1591A>G | ENSP00000516674.1:n.*1591A>G | |
| ENST00000706955.1:c.*2838A>G | ENSP00000516675.1:n.*2838A>G | |
| ENST00000688158.1:c.*2914A>G | ENSP00000509254.1:n.*2914A>G | |
| ENST00000693560.1:c.*1591A>G | ENSP00000509861.1:n.*1591A>G | |
| ENST00000371953.8:c.*1591A>G MANE Select | ENSP00000361021.3:n.*1591A>G | |
| ENST00000371953.7:c.*1591A>G | ENSP00000361021.3:n.*1591A>G | |
| NM_000314.5:c.*1591A>G | NP_000305.3:n.*1591A>G | |
| NM_000314.6:c.*1591A>G | NP_000305.3:n.*1591A>G | |
| NM_001304717.2:c.*1591A>G | NP_001291646.2:n.*1591A>G | |
| NM_001304718.1:c.*1591A>G | NP_001291647.1:n.*1591A>G | |
| XM_006717926.2:c.*1591A>G | XP_006717989.1:n.*1591A>G | |
| XM_011539982.1:c.*1591A>G | XP_011538284.1:n.*1591A>G | |
| XR_945791.1:n.3373A>G | ||
| NM_000314.7:c.*1591A>G | NP_000305.3:n.*1591A>G | |
| NM_001304717.5:c.*1591A>G | NP_001291646.4:n.*1591A>G | |
| NM_001304718.2:c.*1591A>G | NP_001291647.1:n.*1591A>G | |
| NM_000314.8:c.*1591A>G MANE Select | NP_000305.3:n.*1591A>G |