Linked Data
ClinVar Variation Id:
779461
ClinVar RCV Id:
RCV000960300
dbSNP Id:
rs55924999
ExAC:
17:56663295 C / A
gnomAD v2:
17-56663295-C-A
gnomAD v3:
17-58585934-C-A
gnomAD v4:
17-58585934-C-A
MyVariant Identifiers:
chr17:g.56663295C>A (hg19)
chr17:g.56663295_56663297delinsAGT (hg19)
chr17:g.58585934C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58585934C>A , CM000679.2:g.58585934C>A | GRCh38 |
| NC_000017.10:g.56663295C>A , CM000679.1:g.56663295C>A | GRCh37 |
| NC_000017.9:g.54018294C>A | NCBI36 |
| NG_047169.1:g.111146G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349033.10:c.2937G>T MANE Select | ENSP00000268910.8:p.Thr979= | |
| ENST00000240361.12:c.2955G>T | ENSP00000240361.8:p.Thr985= | |
| ENST00000349033.9:c.2937G>T | ENSP00000268910.8:p.Thr979= | |
| ENST00000389934.7:c.2937G>T | ENSP00000374584.3:p.Thr979= | |
| ENST00000582740.1:c.*2775G>T | ENSP00000463593.1:n.*2775G>T | |
| NM_001201457.1:c.2955G>T | NP_001188386.1:p.Thr985= | |
| NM_031272.4:c.2937G>T | NP_112562.3:p.Thr979= | |
| NM_198393.3:c.2937G>T | NP_938207.2:p.Thr979= | |
| XM_011525028.1:c.3060G>T | XP_011523330.1:p.Thr1020= | |
| XM_011525029.1:c.3060G>T | XP_011523331.1:p.Thr1020= | |
| XM_011525030.1:c.3060G>T | XP_011523332.1:p.Thr1020= | |
| XM_011525031.1:c.3060G>T | XP_011523333.1:p.Thr1020= | |
| XM_011525032.1:c.2823G>T | XP_011523334.1:p.Thr941= | |
| XM_011525033.1:c.1761G>T | XP_011523335.1:p.Thr587= | |
| XM_011525029.3:c.3060G>T | XP_011523331.1:p.Thr1020= | |
| XM_017024861.1:c.1761G>T | XP_016880350.1:p.Thr587= | |
| NM_001201457.2:c.2955G>T | NP_001188386.1:p.Thr985= | |
| NM_031272.5:c.2937G>T MANE Select | NP_112562.3:p.Thr979= | |
| NM_198393.4:c.2937G>T | NP_938207.2:p.Thr979= |