Linked Data
ClinVar Variation Id:
387929
dbSNP Id:
rs1057522948
gnomAD v2:
17-56809833-T-C
gnomAD v3:
17-58732472-T-C
gnomAD v4:
17-58732472-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58732472T>C , CM000679.2:g.58732472T>C | GRCh38 |
| NC_000017.10:g.56809833T>C , CM000679.1:g.56809833T>C | GRCh37 |
| NC_000017.9:g.54164832T>C | NCBI36 |
| NG_023199.1:g.44871T>C , LRG_314:g.44871T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.615-12T>C | ENSP00000464056.2:n.615-12T>C | |
| ENST00000697680.1:c.*1930-12T>C | ENSP00000513392.1:n.*1930-12T>C | |
| ENST00000697681.1:c.*2127-12T>C | ENSP00000513393.1:n.*2127-12T>C | |
| ENST00000697683.1:c.*1902-12T>C | ENSP00000513395.1:n.*1902-12T>C | |
| ENST00000697685.1:c.*1663-12T>C | ENSP00000513396.1:n.*1663-12T>C | |
| ENST00000697686.1:c.737-12T>C | ENSP00000513397.1:n.737-12T>C | |
| ENST00000697689.1:c.*1441-1646T>C | ENSP00000513398.1:n.*1441-1646T>C | |
| ENST00000697690.1:c.905-1646T>C | ENSP00000513399.1:n.905-1646T>C | |
| ENST00000697691.1:c.*938-12T>C | ENSP00000513400.1:n.*938-12T>C | |
| ENST00000697692.1:c.*978-12T>C | ENSP00000513401.1:n.*978-12T>C | |
| ENST00000697694.1:c.615-12T>C | ENSP00000513402.1:n.615-12T>C | |
| ENST00000697695.1:n.1573-12T>C | ||
| ENST00000337432.9:c.966-12T>C MANE Select | ENSP00000336701.4:n.966-12T>C | |
| ENST00000337432.8:c.966-12T>C | ENSP00000336701.4:n.966-12T>C | |
| ENST00000413590.5:c.604-9T>C | ||
| ENST00000461706.1:n.141T>C | ||
| ENST00000475762.5:c.*1602-12T>C | ENSP00000432421.1:n.*1602-12T>C | |
| ENST00000482007.5:c.*394-12T>C | ENSP00000433332.1:n.*394-12T>C | |
| ENST00000487525.5:c.*539-9T>C | ENSP00000431637.1:n.*539-9T>C | |
| ENST00000578151.1:n.240-1646T>C | ||
| ENST00000581221.5:n.481-12T>C | ||
| ENST00000583539.5:c.966-12T>C | ENSP00000463121.1:n.966-12T>C | |
| ENST00000584617.5:c.688-12T>C | ||
| ENST00000584804.1:c.200-12T>C | ENSP00000463658.1:n.200-12T>C | |
| NM_058216.2:c.966-12T>C | NP_478123.1:n.966-12T>C | |
| NR_103872.1:n.870-12T>C | ||
| XM_006722001.2:c.966-9T>C | XP_006722064.1:n.966-9T>C | |
| XM_006722002.2:c.905-12T>C | XP_006722065.1:n.905-12T>C | |
| XM_006722004.2:c.615-9T>C | XP_006722067.1:n.615-9T>C | |
| XM_006722005.2:c.615-9T>C | XP_006722068.1:n.615-9T>C | |
| XM_011525092.1:c.615-9T>C | XP_011523394.1:n.615-9T>C | |
| XM_011525093.1:c.615-9T>C | XP_011523395.1:n.615-9T>C | |
| XM_011525094.1:c.615-9T>C | XP_011523396.1:n.615-9T>C | |
| XR_934513.1:n.1184-12T>C | ||
| XR_934514.1:n.1184-9T>C | ||
| XR_934886.1:n.149+5599A>G | ||
| XM_006722001.4:c.966-9T>C | XP_006722064.1:n.966-9T>C | |
| XM_006722002.4:c.905-12T>C | XP_006722065.1:n.905-12T>C | |
| XM_006722004.3:c.615-9T>C | XP_006722067.1:n.615-9T>C | |
| XM_006722005.3:c.615-9T>C | XP_006722068.1:n.615-9T>C | |
| XM_011525092.2:c.615-9T>C | XP_011523394.1:n.615-9T>C | |
| XM_011525093.2:c.615-9T>C | XP_011523395.1:n.615-9T>C | |
| XM_011525094.2:c.615-9T>C | XP_011523396.1:n.615-9T>C | |
| XM_017024914.1:c.615-12T>C | XP_016880403.1:n.615-12T>C | |
| XM_017024915.1:c.615-12T>C | XP_016880404.1:n.615-12T>C | |
| XM_017024916.1:c.615-12T>C | XP_016880405.1:n.615-12T>C | |
| XM_017024917.1:c.615-12T>C | XP_016880406.1:n.615-12T>C | |
| XM_017024918.2:c.615-12T>C | XP_016880407.1:n.615-12T>C | |
| XM_017024919.1:c.554-12T>C | XP_016880408.1:n.554-12T>C | |
| XR_934513.3:n.1615-12T>C | ||
| XR_934514.3:n.1615-9T>C | ||
| XR_934886.2:n.149+5599A>G | ||
| NM_058216.3:c.966-12T>C MANE Select | NP_478123.1:n.966-12T>C | |
| NR_103872.2:n.841-12T>C |