Linked Data
ClinVar Variation Id:
315596
ClinVar RCV Id:
RCV000267883
dbSNP Id:
rs4780233
gnomAD v2:
15-34525035-T-C
gnomAD v3:
15-34232834-T-C
gnomAD v4:
15-34232834-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34232834T>C , CM000677.2:g.34232834T>C | GRCh38 |
| NC_000015.9:g.34525035T>C , CM000677.1:g.34525035T>C | GRCh37 |
| NC_000015.8:g.32312327T>C | NCBI36 |
| NG_007951.1:g.110231A>G , LRG_270:g.110231A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.*1047A>G MANE Select | ENSP00000346112.3:n.*1047A>G | |
| ENST00000676379.1:c.3394-299A>G | ENSP00000502539.1:n.3394-299A>G | |
| ENST00000290209.9:c.*1047A>G | ENSP00000290209.5:n.*1047A>G | |
| NM_001042494.1:c.*1047A>G | NP_001035959.1:n.*1047A>G | |
| NM_001042495.1:c.*1047A>G | NP_001035960.1:n.*1047A>G | |
| NM_001042496.1:c.*1047A>G | NP_001035961.1:n.*1047A>G | |
| NM_001042497.1:c.*1047A>G | NP_001035962.1:n.*1047A>G | |
| NM_005135.2:c.*1047A>G , LRG_270t1:c.*1047A>G | NP_005126.1:n.*1047A>G | |
| NM_133647.1:c.*1047A>G , LRG_270t2:c.*1047A>G | NP_598408.1:n.*1047A>G | |
| XM_011522267.1:c.*1047A>G | XP_011520569.1:n.*1047A>G | |
| XM_011522268.1:c.*1047A>G | XP_011520570.1:n.*1047A>G | |
| XR_429476.2:n.4506A>G | ||
| NM_001365088.1:c.*1047A>G MANE Select | NP_001352017.1:n.*1047A>G | |
| XM_006720793.4:c.*1047A>G | XP_006720856.1:n.*1047A>G | |
| NM_001042494.2:c.*1047A>G | NP_001035959.1:n.*1047A>G | |
| NM_001042495.2:c.*1047A>G | NP_001035960.1:n.*1047A>G | |
| NM_001042496.2:c.*1047A>G | NP_001035961.1:n.*1047A>G | |
| NM_001042497.2:c.*1047A>G | NP_001035962.1:n.*1047A>G | |
| NM_133647.2:c.*1047A>G | NP_598408.1:n.*1047A>G |