Linked Data
ClinVar Variation Id:
317432
ClinVar RCV Id:
RCV000275841
dbSNP Id:
rs886051557
gnomAD v3:
15-91022386-T-C
gnomAD v4:
15-91022386-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91022386T>C , CM000677.2:g.91022386T>C | GRCh38 |
| NC_000015.9:g.91565616T>C , CM000677.1:g.91565616T>C | GRCh37 |
| NC_000015.8:g.89366620T>C | NCBI36 |
| NG_012162.1:g.5218A>G , LRG_884:g.5218A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333371.8:c.-137A>G MANE Select | ENSP00000327650.4:n.-137A>G | |
| ENST00000643536.1:c.-137A>G | ENSP00000494429.1:n.-137A>G | |
| ENST00000333371.7:c.-137A>G | ENSP00000327650.3:n.-137A>G | |
| ENST00000535906.1:c.-137A>G | ENSP00000444053.1:n.-137A>G | |
| ENST00000556096.6:n.218A>G | ||
| ENST00000557358.1:n.211A>G | ||
| ENST00000574755.5:c.-137A>G | ENSP00000460413.1:n.-137A>G | |
| NM_001289148.1:c.-137A>G | NP_001276077.1:n.-137A>G | |
| NM_001289149.1:c.-348A>G | NP_001276078.1:n.-348A>G | |
| NM_018668.4:c.-137A>G , LRG_884t1:c.-137A>G | NP_061138.3:n.-137A>G | |
| XM_005254884.2:c.-137A>G | XP_005254941.1:n.-137A>G | |
| XM_005254887.1:c.-267A>G | XP_005254944.1:n.-267A>G | |
| XM_005254888.2:c.-137A>G | XP_005254945.1:n.-137A>G | |
| XM_011521448.1:c.-450A>G | XP_011519750.1:n.-450A>G | |
| XM_017022075.2:c.-498A>G | XP_016877564.1:n.-498A>G | |
| XM_017022076.1:c.-355A>G | XP_016877565.1:n.-355A>G | |
| XR_001751213.2:n.200A>G | ||
| NM_018668.5:c.-137A>G MANE Select | NP_061138.3:n.-137A>G |