Linked Data
ClinVar Variation Id:
1097477
ClinVar RCV Id:
RCV001419083
dbSNP Id:
rs748097279
ExAC:
17:8025276 G / T
gnomAD v2:
17-8025276-G-T
gnomAD v3:
17-8121958-G-T
gnomAD v4:
17-8121958-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121958G>T , CM000679.2:g.8121958G>T | GRCh38 |
| NC_000017.10:g.8025276G>T , CM000679.1:g.8025276G>T | GRCh37 |
| NC_000017.9:g.7966001G>T | NCBI36 |
| NG_015807.1:g.1959C>A | |
| NG_015816.1:g.7135C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.306C>A MANE Select | ENSP00000446205.2:p.Arg102= | |
| ENST00000317814.8:c.291C>A | ENSP00000314774.4:p.Arg97= | |
| ENST00000541682.6:c.306C>A | ENSP00000446205.2:p.Arg102= | |
| ENST00000577735.1:c.282C>A | ENSP00000462491.1:p.Arg94= | |
| NM_001165967.1:c.306C>A | NP_001159439.1:p.Arg102= | |
| NM_032580.3:c.291C>A | NP_115969.2:p.Arg97= | |
| XM_011524038.1:c.411C>A | XP_011522340.1:p.Arg137= | |
| XM_011524039.1:c.402C>A | XP_011522341.1:p.Arg134= | |
| XM_011524040.1:c.402C>A | XP_011522342.1:p.Arg134= | |
| XM_011524041.1:c.393C>A | XP_011522343.1:p.Arg131= | |
| XM_011524042.1:c.264C>A | XP_011522344.1:p.Arg88= | |
| XR_934203.1:n.69+2144G>T | ||
| XM_017025232.1:c.411C>A | XP_016880721.1:p.Arg137= | |
| XM_024451007.1:c.411C>A | XP_024306775.1:p.Arg137= | |
| NM_001165967.2:c.306C>A MANE Select | NP_001159439.1:p.Arg102= | |
| NM_032580.4:c.291C>A | NP_115969.2:p.Arg97= |