Linked Data
ClinVar Variation Id:
315784
ClinVar RCV Id:
RCV000313417
dbSNP Id:
rs576136057
gnomAD v2:
15-38648687-A-G
gnomAD v3:
15-38356486-A-G
gnomAD v4:
15-38356486-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38356486A>G , CM000677.2:g.38356486A>G | GRCh38 |
| NC_000015.9:g.38648687A>G , CM000677.1:g.38648687A>G | GRCh37 |
| NC_000015.8:g.36435979A>G | NCBI36 |
| NG_008980.1:g.108636A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.*4822A>G MANE Select | ENSP00000299084.4:n.*4822A>G | |
| ENST00000299084.8:c.*4822A>G | ENSP00000299084.4:n.*4822A>G | |
| NM_152594.2:c.*4822A>G | NP_689807.1:n.*4822A>G | |
| XM_005254202.3:c.*4822A>G | XP_005254259.1:n.*4822A>G | |
| XM_011521289.3:c.*4822A>G | XP_011519591.1:n.*4822A>G | |
| NM_152594.3:c.*4822A>G MANE Select | NP_689807.1:n.*4822A>G |