Linked Data
ClinVar Variation Id:
480516
dbSNP Id:
rs1350543873
gnomAD v2:
17-56811545-A-C
gnomAD v4:
17-58734184-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58734184A>C , CM000679.2:g.58734184A>C | GRCh38 |
| NC_000017.10:g.56811545A>C , CM000679.1:g.56811545A>C | GRCh37 |
| NC_000017.9:g.54166544A>C | NCBI36 |
| NG_023199.1:g.46583A>C , LRG_314:g.46583A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.*1625A>C | ENSP00000464056.2:n.*1625A>C | |
| ENST00000697680.1:c.*2057A>C | ENSP00000513392.1:n.*2057A>C | |
| ENST00000697681.1:c.*2254A>C | ENSP00000513393.1:n.*2254A>C | |
| ENST00000697683.1:c.*2029A>C | ENSP00000513395.1:n.*2029A>C | |
| ENST00000697685.1:c.*1790A>C | ENSP00000513396.1:n.*1790A>C | |
| ENST00000697686.1:c.*3A>C | ENSP00000513397.1:n.*3A>C | |
| ENST00000697689.1:c.*1507A>C | ENSP00000513398.1:n.*1507A>C | |
| ENST00000697690.1:c.*53A>C | ENSP00000513399.1:n.*53A>C | |
| ENST00000697691.1:c.*1065A>C | ENSP00000513400.1:n.*1065A>C | |
| ENST00000697692.1:c.*1105A>C | ENSP00000513401.1:n.*1105A>C | |
| ENST00000697694.1:c.742A>C | ENSP00000513402.1:p.Thr248Pro | |
| ENST00000697695.1:n.1700A>C | ||
| ENST00000337432.9:c.1093A>C MANE Select | ENSP00000336701.4:p.Thr365Pro | |
| ENST00000337432.8:c.1093A>C | ENSP00000336701.4:p.Thr365Pro | |
| ENST00000413590.5:c.734A>C | ||
| ENST00000461706.1:n.280A>C | ||
| ENST00000475762.5:c.*1729A>C | ENSP00000432421.1:n.*1729A>C | |
| ENST00000482007.5:c.*521A>C | ENSP00000433332.1:n.*521A>C | |
| ENST00000487525.5:c.*669A>C | ENSP00000431637.1:n.*669A>C | |
| ENST00000578151.1:n.306A>C | ||
| ENST00000581221.5:n.608A>C | ||
| ENST00000584804.1:c.327A>C | ENSP00000463658.1:n.327A>C | |
| NM_058216.2:c.1093A>C | NP_478123.1:p.Thr365Pro | |
| NR_103872.1:n.997A>C | ||
| XM_006722001.2:c.1096A>C | XP_006722064.1:p.Thr366Pro | |
| XM_006722002.2:c.*3A>C | XP_006722065.1:n.*3A>C | |
| XM_006722004.2:c.745A>C | XP_006722067.1:p.Thr249Pro | |
| XM_006722005.2:c.745A>C | XP_006722068.1:p.Thr249Pro | |
| XM_011525092.1:c.745A>C | XP_011523394.1:p.Thr249Pro | |
| XM_011525093.1:c.745A>C | XP_011523395.1:p.Thr249Pro | |
| XM_011525094.1:c.745A>C | XP_011523396.1:p.Thr249Pro | |
| XR_934513.1:n.1311A>C | ||
| XR_934886.1:n.149+3887T>G | ||
| XM_006722001.4:c.1096A>C | XP_006722064.1:p.Thr366Pro | |
| XM_006722002.4:c.*3A>C | XP_006722065.1:n.*3A>C | |
| XM_006722004.3:c.745A>C | XP_006722067.1:p.Thr249Pro | |
| XM_006722005.3:c.745A>C | XP_006722068.1:p.Thr249Pro | |
| XM_011525092.2:c.745A>C | XP_011523394.1:p.Thr249Pro | |
| XM_011525093.2:c.745A>C | XP_011523395.1:p.Thr249Pro | |
| XM_011525094.2:c.745A>C | XP_011523396.1:p.Thr249Pro | |
| XM_017024914.1:c.742A>C | XP_016880403.1:p.Thr248Pro | |
| XM_017024915.1:c.742A>C | XP_016880404.1:p.Thr248Pro | |
| XM_017024916.1:c.742A>C | XP_016880405.1:p.Thr248Pro | |
| XM_017024917.1:c.742A>C | XP_016880406.1:p.Thr248Pro | |
| XM_017024918.2:c.742A>C | XP_016880407.1:p.Thr248Pro | |
| XM_017024919.1:c.*3A>C | XP_016880408.1:n.*3A>C | |
| XR_934513.3:n.1742A>C | ||
| XR_934886.2:n.149+3887T>G | ||
| NM_058216.3:c.1093A>C MANE Select | NP_478123.1:p.Thr365Pro | |
| NR_103872.2:n.968A>C |