Linked Data
dbSNP Id:
rs1458960994
gnomAD v2:
17-8024919-C-T
gnomAD v3:
17-8121601-C-T
gnomAD v4:
17-8121601-C-T
MyVariant Identifiers:
chr17:g.8024919C>T (hg19)
chr17:g.8024919_8024920delinsTG (hg19)
chr17:g.8121601C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121601C>T , CM000679.2:g.8121601C>T | GRCh38 |
| NC_000017.10:g.8024919C>T , CM000679.1:g.8024919C>T | GRCh37 |
| NC_000017.9:g.7965644C>T | NCBI36 |
| NG_015807.1:g.2316G>A | |
| NG_015816.1:g.7492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.663G>A MANE Select | ENSP00000446205.2:p.Pro221= | |
| ENST00000317814.8:c.648G>A | ENSP00000314774.4:p.Pro216= | |
| ENST00000541682.6:c.663G>A | ENSP00000446205.2:p.Pro221= | |
| NM_001165967.1:c.663G>A | NP_001159439.1:p.Pro221= | |
| NM_032580.3:c.648G>A | NP_115969.2:p.Pro216= | |
| XM_011524038.1:c.768G>A | XP_011522340.1:p.Pro256= | |
| XM_011524039.1:c.759G>A | XP_011522341.1:p.Pro253= | |
| XM_011524040.1:c.759G>A | XP_011522342.1:p.Pro253= | |
| XM_011524041.1:c.750G>A | XP_011522343.1:p.Pro250= | |
| XM_011524042.1:c.621G>A | XP_011522344.1:p.Pro207= | |
| XR_934203.1:n.69+1787C>T | ||
| XM_017025232.1:c.768G>A | XP_016880721.1:p.Pro256= | |
| XM_024451007.1:c.768G>A | XP_024306775.1:p.Pro256= | |
| NM_001165967.2:c.663G>A MANE Select | NP_001159439.1:p.Pro221= | |
| NM_032580.4:c.648G>A | NP_115969.2:p.Pro216= |