Linked Data
ClinVar Variation Id:
763355
ClinVar RCV Id:
RCV000941587
dbSNP Id:
rs985652294
gnomAD v2:
17-8024943-C-T
gnomAD v3:
17-8121625-C-T
gnomAD v4:
17-8121625-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121625C>T , CM000679.2:g.8121625C>T | GRCh38 |
| NC_000017.10:g.8024943C>T , CM000679.1:g.8024943C>T | GRCh37 |
| NC_000017.9:g.7965668C>T | NCBI36 |
| NG_015807.1:g.2292G>A | |
| NG_015816.1:g.7468G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.639G>A MANE Select | ENSP00000446205.2:p.Gly213= | |
| ENST00000317814.8:c.624G>A | ENSP00000314774.4:p.Gly208= | |
| ENST00000541682.6:c.639G>A | ENSP00000446205.2:p.Gly213= | |
| NM_001165967.1:c.639G>A | NP_001159439.1:p.Gly213= | |
| NM_032580.3:c.624G>A | NP_115969.2:p.Gly208= | |
| XM_011524038.1:c.744G>A | XP_011522340.1:p.Gly248= | |
| XM_011524039.1:c.735G>A | XP_011522341.1:p.Gly245= | |
| XM_011524040.1:c.735G>A | XP_011522342.1:p.Gly245= | |
| XM_011524041.1:c.726G>A | XP_011522343.1:p.Gly242= | |
| XM_011524042.1:c.597G>A | XP_011522344.1:p.Gly199= | |
| XR_934203.1:n.69+1811C>T | ||
| XM_017025232.1:c.744G>A | XP_016880721.1:p.Gly248= | |
| XM_024451007.1:c.744G>A | XP_024306775.1:p.Gly248= | |
| NM_001165967.2:c.639G>A MANE Select | NP_001159439.1:p.Gly213= | |
| NM_032580.4:c.624G>A | NP_115969.2:p.Gly208= |