Linked Data
ClinVar Variation Id:
887069
ClinVar RCV Id:
RCV001119578
dbSNP Id:
rs755230054
ExAC:
15:38545363 A / G
gnomAD v2:
15-38545363-A-G
gnomAD v3:
15-38253162-A-G
gnomAD v4:
15-38253162-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38253162A>G , CM000677.2:g.38253162A>G | GRCh38 |
| NC_000015.9:g.38545363A>G , CM000677.1:g.38545363A>G | GRCh37 |
| NC_000015.8:g.36332655A>G | NCBI36 |
| NG_008980.1:g.5312A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.-24A>G MANE Select | ENSP00000299084.4:n.-24A>G | |
| ENST00000299084.8:c.-24A>G | ENSP00000299084.4:n.-24A>G | |
| ENST00000561205.1:n.315A>G | ||
| NM_152594.2:c.-24A>G | NP_689807.1:n.-24A>G | |
| XM_005254202.2:c.-24A>G | XP_005254259.1:n.-24A>G | |
| XM_005254203.3:c.-71A>G | XP_005254260.1:n.-71A>G | |
| XM_005254202.3:c.-24A>G | XP_005254259.1:n.-24A>G | |
| XR_001751484.1:n.87+405T>C | ||
| NM_152594.3:c.-24A>G MANE Select | NP_689807.1:n.-24A>G |