Linked Data
ClinVar Variation Id:
538772
ClinVar RCV Id:
RCV000648236
dbSNP Id:
rs1233795152
gnomAD v2:
17-56772547-T-C
gnomAD v4:
17-58695186-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58695186T>C , CM000679.2:g.58695186T>C | GRCh38 |
| NC_000017.10:g.56772547T>C , CM000679.1:g.56772547T>C | GRCh37 |
| NC_000017.9:g.54127546T>C | NCBI36 |
| NG_023199.1:g.7585T>C , LRG_314:g.7585T>C | |
| NG_047169.1:g.1894A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.50T>C | ENSP00000464056.2:p.Leu17Ser | |
| ENST00000697675.1:n.1495T>C | ||
| ENST00000697676.1:n.461T>C | ||
| ENST00000697677.1:n.1482T>C | ||
| ENST00000697678.1:n.303T>C | ||
| ENST00000697679.1:n.1475T>C | ||
| ENST00000697680.1:c.*1265T>C | ENSP00000513392.1:n.*1265T>C | |
| ENST00000697681.1:c.*1265T>C | ENSP00000513393.1:n.*1265T>C | |
| ENST00000697683.1:c.*1265T>C | ENSP00000513395.1:n.*1265T>C | |
| ENST00000697684.1:n.461T>C | ||
| ENST00000697685.1:c.*1265T>C | ENSP00000513396.1:n.*1265T>C | |
| ENST00000697686.1:c.50T>C | ENSP00000513397.1:p.Leu17Ser | |
| ENST00000697687.1:n.447T>C | ||
| ENST00000697688.1:n.447T>C | ||
| ENST00000697689.1:c.*1104T>C | ENSP00000513398.1:n.*1104T>C | |
| ENST00000697690.1:c.401T>C | ENSP00000513399.1:p.Leu134Ser | |
| ENST00000697691.1:c.*373T>C | ENSP00000513400.1:n.*373T>C | |
| ENST00000697692.1:c.*413T>C | ENSP00000513401.1:n.*413T>C | |
| ENST00000697693.1:n.1176T>C | ||
| ENST00000697694.1:c.50T>C | ENSP00000513402.1:p.Leu17Ser | |
| ENST00000697695.1:n.1008T>C | ||
| ENST00000337432.9:c.401T>C MANE Select | ENSP00000336701.4:p.Leu134Ser | |
| ENST00000337432.8:c.401T>C | ENSP00000336701.4:p.Leu134Ser | |
| ENST00000413590.5:c.39T>C | ||
| ENST00000421782.3:c.401T>C | ENSP00000391450.2:p.Leu134Ser | |
| ENST00000425173.5:c.197T>C | ENSP00000407282.1:p.Leu66Ser | |
| ENST00000461271.5:c.50T>C | ENSP00000464056.1:p.Leu17Ser | |
| ENST00000475762.5:c.*1104T>C | ENSP00000432421.1:n.*1104T>C | |
| ENST00000482007.5:c.401T>C | ENSP00000433332.1:p.Leu134Ser | |
| ENST00000486827.1:c.*1265T>C | ENSP00000436761.1:n.*1265T>C | |
| ENST00000487525.5:c.401T>C | ENSP00000431637.1:p.Leu134Ser | |
| ENST00000487921.5:n.313T>C | ||
| ENST00000583539.5:c.401T>C | ENSP00000463121.1:p.Leu134Ser | |
| ENST00000584617.5:c.127-1507T>C | ||
| ENST00000622327.4:c.137T>C | ENSP00000482326.1:p.Leu46Ser | |
| NM_002876.3:c.401T>C | NP_002867.1:p.Leu134Ser | |
| NM_058216.2:c.401T>C | NP_478123.1:p.Leu134Ser | |
| NR_103872.1:n.472T>C | ||
| NR_103873.1:n.369T>C | ||
| XM_006722001.2:c.401T>C | XP_006722064.1:p.Leu134Ser | |
| XM_006722002.2:c.401T>C | XP_006722065.1:p.Leu134Ser | |
| XM_006722004.2:c.50T>C | XP_006722067.1:p.Leu17Ser | |
| XM_006722005.2:c.50T>C | XP_006722068.1:p.Leu17Ser | |
| XM_011525092.1:c.50T>C | XP_011523394.1:p.Leu17Ser | |
| XM_011525093.1:c.50T>C | XP_011523395.1:p.Leu17Ser | |
| XM_011525094.1:c.50T>C | XP_011523396.1:p.Leu17Ser | |
| XR_934513.1:n.474T>C | ||
| XR_934514.1:n.474T>C | ||
| XM_006722001.4:c.401T>C | XP_006722064.1:p.Leu134Ser | |
| XM_006722002.4:c.401T>C | XP_006722065.1:p.Leu134Ser | |
| XM_006722004.3:c.50T>C | XP_006722067.1:p.Leu17Ser | |
| XM_006722005.3:c.50T>C | XP_006722068.1:p.Leu17Ser | |
| XM_011525092.2:c.50T>C | XP_011523394.1:p.Leu17Ser | |
| XM_011525093.2:c.50T>C | XP_011523395.1:p.Leu17Ser | |
| XM_011525094.2:c.50T>C | XP_011523396.1:p.Leu17Ser | |
| XM_017024914.1:c.50T>C | XP_016880403.1:p.Leu17Ser | |
| XM_017024915.1:c.50T>C | XP_016880404.1:p.Leu17Ser | |
| XM_017024916.1:c.50T>C | XP_016880405.1:p.Leu17Ser | |
| XM_017024917.1:c.50T>C | XP_016880406.1:p.Leu17Ser | |
| XM_017024918.2:c.50T>C | XP_016880407.1:p.Leu17Ser | |
| XM_017024919.1:c.50T>C | XP_016880408.1:p.Leu17Ser | |
| XR_934513.3:n.905T>C | ||
| XR_934514.3:n.905T>C | ||
| NM_058216.3:c.401T>C MANE Select | NP_478123.1:p.Leu134Ser | |
| NR_103872.2:n.443T>C | ||
| NM_002876.4:c.401T>C | NP_002867.1:p.Leu134Ser |