Linked Data
ClinVar Variation Id:
1558876
ClinVar RCV Id:
RCV002200279
dbSNP Id:
rs2151853643
gnomAD v4:
17-8121988-C-A
MyVariant Identifiers:
chr17:g.8025306C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121988C>A , CM000679.2:g.8121988C>A | GRCh38 |
| NC_000017.10:g.8025306C>A , CM000679.1:g.8025306C>A | GRCh37 |
| NC_000017.9:g.7966031C>A | NCBI36 |
| NG_015807.1:g.1929G>T | |
| NG_015816.1:g.7105G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.276G>T MANE Select | ENSP00000446205.2:p.Ala92= | |
| ENST00000317814.8:c.261G>T | ENSP00000314774.4:p.Ala87= | |
| ENST00000541682.6:c.276G>T | ENSP00000446205.2:p.Ala92= | |
| ENST00000577735.1:c.252G>T | ENSP00000462491.1:p.Ala84= | |
| NM_001165967.1:c.276G>T | NP_001159439.1:p.Ala92= | |
| NM_032580.3:c.261G>T | NP_115969.2:p.Ala87= | |
| XM_011524038.1:c.381G>T | XP_011522340.1:p.Ala127= | |
| XM_011524039.1:c.372G>T | XP_011522341.1:p.Ala124= | |
| XM_011524040.1:c.372G>T | XP_011522342.1:p.Ala124= | |
| XM_011524041.1:c.363G>T | XP_011522343.1:p.Ala121= | |
| XM_011524042.1:c.234G>T | XP_011522344.1:p.Ala78= | |
| XR_934203.1:n.69+2174C>A | ||
| XM_017025232.1:c.381G>T | XP_016880721.1:p.Ala127= | |
| XM_024451007.1:c.381G>T | XP_024306775.1:p.Ala127= | |
| NM_001165967.2:c.276G>T MANE Select | NP_001159439.1:p.Ala92= | |
| NM_032580.4:c.261G>T | NP_115969.2:p.Ala87= |