Linked Data
ClinVar Variation Id:
421647
dbSNP Id:
rs772397517
ExAC:
19:50920475 C / T
gnomAD v2:
19-50920475-C-T
gnomAD v3:
19-50417218-C-T
gnomAD v4:
19-50417218-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50417218C>T , CM000681.2:g.50417218C>T | GRCh38 |
| NC_000019.9:g.50920475C>T , CM000681.1:g.50920475C>T | GRCh37 |
| NC_000019.8:g.55612287C>T | NCBI36 |
| NG_033800.1:g.37896C>T , LRG_785:g.37896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593887.2:c.3167C>T | ENSP00000472607.2:p.Thr1056Met | |
| ENST00000600746.2:n.3358C>T | ||
| ENST00000644560.2:c.3173C>T | ENSP00000495618.2:p.Thr1058Met | |
| ENST00000687454.1:c.3167C>T | ENSP00000510052.1:p.Thr1056Met | |
| ENST00000440232.7:c.3167C>T MANE Select | ENSP00000406046.1:p.Thr1056Met | |
| ENST00000595904.6:c.3245C>T | ENSP00000472445.1:p.Thr1082Met | |
| ENST00000599857.7:c.3167C>T | ENSP00000473052.1:p.Thr1056Met | |
| ENST00000601098.6:c.3167C>T | ENSP00000472600.2:p.Thr1056Met | |
| ENST00000613923.6:c.3095C>T | ENSP00000481858.2:p.Thr1032Met | |
| ENST00000440232.6:c.3167C>T | ENSP00000406046.1:p.Thr1056Met | |
| ENST00000593981.1:c.740C>T | ||
| ENST00000595904.5:c.3245C>T | ENSP00000472445.1:p.Thr1082Met | |
| ENST00000596221.1:n.192C>T | ||
| ENST00000597963.5:n.511C>T | ||
| ENST00000599632.1:c.375C>T | ||
| ENST00000599857.5:c.3167C>T | ENSP00000473052.1:p.Thr1056Met | |
| ENST00000600859.5:c.*34C>T | ENSP00000470726.1:n.*34C>T | |
| ENST00000613923.4:c.3245C>T | ENSP00000481858.1:p.Thr1082Met | |
| NM_001256849.1:c.3167C>T , LRG_785t1:c.3167C>T | NP_001243778.1:p.Thr1056Met | |
| NM_001308632.1:c.3245C>T , LRG_785t2:c.3245C>T | NP_001295561.1:p.Thr1082Met | |
| NM_002691.3:c.3167C>T | NP_002682.2:p.Thr1056Met | |
| NR_046402.1:n.3133C>T | ||
| XM_005259008.3:c.3095C>T | XP_005259065.1:p.Thr1032Met | |
| XM_011527038.1:c.3167C>T | XP_011525340.1:p.Thr1056Met | |
| XM_011527039.1:c.3167C>T | XP_011525341.1:p.Thr1056Met | |
| XM_005259008.4:c.3095C>T | XP_005259065.1:p.Thr1032Met | |
| XM_017026881.1:c.3167C>T | XP_016882370.1:p.Thr1056Met | |
| XM_017026882.2:c.3095C>T | XP_016882371.1:p.Thr1032Met | |
| NM_002691.4:c.3167C>T MANE Select | NP_002682.2:p.Thr1056Met | |
| NR_046402.2:n.3109C>T |