Linked Data
ClinVar Variation Id:
3024921
ClinVar RCV Id:
RCV003885797
dbSNP Id:
rs55768547
ExAC:
17:56650660 C / T
gnomAD v2:
17-56650660-C-T
gnomAD v3:
17-58573299-C-T
gnomAD v4:
17-58573299-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58573299C>T , CM000679.2:g.58573299C>T | GRCh38 |
| NC_000017.10:g.56650660C>T , CM000679.1:g.56650660C>T | GRCh37 |
| NC_000017.9:g.54005659C>T | NCBI36 |
| NG_047169.1:g.123781G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349033.10:c.3393G>A MANE Select | ENSP00000268910.8:p.Thr1131= | |
| ENST00000240361.12:c.3531G>A | ENSP00000240361.8:p.Thr1177= | |
| ENST00000349033.9:c.3393G>A | ENSP00000268910.8:p.Thr1131= | |
| ENST00000389934.7:c.3513G>A | ENSP00000374584.3:p.Thr1171= | |
| ENST00000582740.1:c.*3231G>A | ENSP00000463593.1:n.*3231G>A | |
| NM_001201457.1:c.3531G>A | NP_001188386.1:p.Thr1177= | |
| NM_031272.4:c.3393G>A | NP_112562.3:p.Thr1131= | |
| NM_198393.3:c.3513G>A | NP_938207.2:p.Thr1171= | |
| XM_011525028.1:c.3636G>A | XP_011523330.1:p.Thr1212= | |
| XM_011525029.1:c.3636G>A | XP_011523331.1:p.Thr1212= | |
| XM_011525030.1:c.3636G>A | XP_011523332.1:p.Thr1212= | |
| XM_011525031.1:c.3636G>A | XP_011523333.1:p.Thr1212= | |
| XM_011525032.1:c.3399G>A | XP_011523334.1:p.Thr1133= | |
| XM_011525033.1:c.2337G>A | XP_011523335.1:p.Thr779= | |
| XM_011525029.3:c.3636G>A | XP_011523331.1:p.Thr1212= | |
| XM_017024861.1:c.2337G>A | XP_016880350.1:p.Thr779= | |
| NM_001201457.2:c.3531G>A | NP_001188386.1:p.Thr1177= | |
| NM_031272.5:c.3393G>A MANE Select | NP_112562.3:p.Thr1131= | |
| NM_198393.4:c.3513G>A | NP_938207.2:p.Thr1171= |