Linked Data
ClinVar Variation Id:
142762
ClinVar RCV Id:
RCV000007225
RCV000132144
RCV000225845
RCV000484863
RCV001171471
RCV001798459
RCV004544303
dbSNP Id:
rs587782702
ExAC:
17:56798178 G / T
gnomAD v2:
17-56798178-G-T
gnomAD v3:
17-58720817-G-T
gnomAD v4:
17-58720817-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58720817G>T , CM000679.2:g.58720817G>T | GRCh38 |
| NC_000017.10:g.56798178G>T , CM000679.1:g.56798178G>T | GRCh37 |
| NC_000017.9:g.54153177G>T | NCBI36 |
| NG_023199.1:g.33216G>T , LRG_314:g.33216G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.553+5G>T | ENSP00000464056.2:n.553+5G>T | |
| ENST00000697678.1:n.811G>T | ||
| ENST00000697679.1:n.1983G>T | ||
| ENST00000697680.1:c.*1868+5G>T | ENSP00000513392.1:n.*1868+5G>T | |
| ENST00000697681.1:c.*2065+5G>T | ENSP00000513393.1:n.*2065+5G>T | |
| ENST00000697683.1:c.*1768+5G>T | ENSP00000513395.1:n.*1768+5G>T | |
| ENST00000697684.1:n.964+5G>T | ||
| ENST00000697685.1:c.*1601+5G>T | ENSP00000513396.1:n.*1601+5G>T | |
| ENST00000697686.1:c.553+5G>T | ENSP00000513397.1:n.553+5G>T | |
| ENST00000697687.1:n.783+5G>T | ||
| ENST00000697688.1:n.950+5G>T | ||
| ENST00000697689.1:c.*1440+5G>T | ENSP00000513398.1:n.*1440+5G>T | |
| ENST00000697690.1:c.904+5G>T | ENSP00000513399.1:n.904+5G>T | |
| ENST00000697691.1:c.*876+5G>T | ENSP00000513400.1:n.*876+5G>T | |
| ENST00000697692.1:c.*916+5G>T | ENSP00000513401.1:n.*916+5G>T | |
| ENST00000697694.1:c.553+5G>T | ENSP00000513402.1:n.553+5G>T | |
| ENST00000697695.1:n.1511+5G>T | ||
| ENST00000337432.9:c.904+5G>T MANE Select | ENSP00000336701.4:n.904+5G>T | |
| ENST00000337432.8:c.904+5G>T | ENSP00000336701.4:n.904+5G>T | |
| ENST00000413590.5:c.542+5G>T | ||
| ENST00000475762.5:c.*1541-3223G>T | ENSP00000432421.1:n.*1541-3223G>T | |
| ENST00000482007.5:c.*332+5G>T | ENSP00000433332.1:n.*332+5G>T | |
| ENST00000487525.5:c.*477+5G>T | ENSP00000431637.1:n.*477+5G>T | |
| ENST00000578151.1:n.239+5G>T | ||
| ENST00000581221.5:n.419+5G>T | ||
| ENST00000583539.5:c.904+5G>T | ENSP00000463121.1:n.904+5G>T | |
| ENST00000584617.5:c.626+5G>T | ||
| ENST00000584804.1:c.199+5G>T | ENSP00000463658.1:n.199+5G>T | |
| NM_058216.2:c.904+5G>T | NP_478123.1:n.904+5G>T | |
| NR_103872.1:n.808+5G>T | ||
| XM_006722001.2:c.904+5G>T | XP_006722064.1:n.904+5G>T | |
| XM_006722002.2:c.904+5G>T | XP_006722065.1:n.904+5G>T | |
| XM_006722004.2:c.553+5G>T | XP_006722067.1:n.553+5G>T | |
| XM_006722005.2:c.553+5G>T | XP_006722068.1:n.553+5G>T | |
| XM_011525092.1:c.553+5G>T | XP_011523394.1:n.553+5G>T | |
| XM_011525093.1:c.553+5G>T | XP_011523395.1:n.553+5G>T | |
| XM_011525094.1:c.553+5G>T | XP_011523396.1:n.553+5G>T | |
| XR_934513.1:n.1122+5G>T | ||
| XR_934514.1:n.1122+5G>T | ||
| XM_006722001.4:c.904+5G>T | XP_006722064.1:n.904+5G>T | |
| XM_006722002.4:c.904+5G>T | XP_006722065.1:n.904+5G>T | |
| XM_006722004.3:c.553+5G>T | XP_006722067.1:n.553+5G>T | |
| XM_006722005.3:c.553+5G>T | XP_006722068.1:n.553+5G>T | |
| XM_011525092.2:c.553+5G>T | XP_011523394.1:n.553+5G>T | |
| XM_011525093.2:c.553+5G>T | XP_011523395.1:n.553+5G>T | |
| XM_011525094.2:c.553+5G>T | XP_011523396.1:n.553+5G>T | |
| XM_017024914.1:c.553+5G>T | XP_016880403.1:n.553+5G>T | |
| XM_017024915.1:c.553+5G>T | XP_016880404.1:n.553+5G>T | |
| XM_017024916.1:c.553+5G>T | XP_016880405.1:n.553+5G>T | |
| XM_017024917.1:c.553+5G>T | XP_016880406.1:n.553+5G>T | |
| XM_017024918.2:c.553+5G>T | XP_016880407.1:n.553+5G>T | |
| XM_017024919.1:c.553+5G>T | XP_016880408.1:n.553+5G>T | |
| XR_934513.3:n.1553+5G>T | ||
| XR_934514.3:n.1553+5G>T | ||
| NM_058216.3:c.904+5G>T MANE Select | NP_478123.1:n.904+5G>T | |
| NR_103872.2:n.779+5G>T |