Linked Data
ClinVar Variation Id:
142585
dbSNP Id:
rs587782565
gnomAD v2:
17-56811542-A-G
gnomAD v4:
17-58734181-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58734181A>G , CM000679.2:g.58734181A>G | GRCh38 |
| NC_000017.10:g.56811542A>G , CM000679.1:g.56811542A>G | GRCh37 |
| NC_000017.9:g.54166541A>G | NCBI36 |
| NG_023199.1:g.46580A>G , LRG_314:g.46580A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.*1622A>G | ENSP00000464056.2:n.*1622A>G | |
| ENST00000697680.1:c.*2054A>G | ENSP00000513392.1:n.*2054A>G | |
| ENST00000697681.1:c.*2251A>G | ENSP00000513393.1:n.*2251A>G | |
| ENST00000697683.1:c.*2026A>G | ENSP00000513395.1:n.*2026A>G | |
| ENST00000697685.1:c.*1787A>G | ENSP00000513396.1:n.*1787A>G | |
| ENST00000697686.1:c.861A>G | ENSP00000513397.1:p.Ter287Trp | |
| ENST00000697689.1:c.*1504A>G | ENSP00000513398.1:n.*1504A>G | |
| ENST00000697690.1:c.*50A>G | ENSP00000513399.1:n.*50A>G | |
| ENST00000697691.1:c.*1062A>G | ENSP00000513400.1:n.*1062A>G | |
| ENST00000697692.1:c.*1102A>G | ENSP00000513401.1:n.*1102A>G | |
| ENST00000697694.1:c.739A>G | ENSP00000513402.1:p.Ser247Gly | |
| ENST00000697695.1:n.1697A>G | ||
| ENST00000337432.9:c.1090A>G MANE Select | ENSP00000336701.4:p.Ser364Gly | |
| ENST00000337432.8:c.1090A>G | ENSP00000336701.4:p.Ser364Gly | |
| ENST00000413590.5:c.731A>G | ||
| ENST00000461706.1:n.277A>G | ||
| ENST00000475762.5:c.*1726A>G | ENSP00000432421.1:n.*1726A>G | |
| ENST00000482007.5:c.*518A>G | ENSP00000433332.1:n.*518A>G | |
| ENST00000487525.5:c.*666A>G | ENSP00000431637.1:n.*666A>G | |
| ENST00000578151.1:n.303A>G | ||
| ENST00000581221.5:n.605A>G | ||
| ENST00000584804.1:c.324A>G | ENSP00000463658.1:p.Ter108Trp | |
| NM_058216.2:c.1090A>G | NP_478123.1:p.Ser364Gly | |
| NR_103872.1:n.994A>G | ||
| XM_006722001.2:c.1093A>G | XP_006722064.1:p.Ser365Gly | |
| XM_006722002.2:c.1029A>G | XP_006722065.1:p.Ter343Trp | |
| XM_006722004.2:c.742A>G | XP_006722067.1:p.Ser248Gly | |
| XM_006722005.2:c.742A>G | XP_006722068.1:p.Ser248Gly | |
| XM_011525092.1:c.742A>G | XP_011523394.1:p.Ser248Gly | |
| XM_011525093.1:c.742A>G | XP_011523395.1:p.Ser248Gly | |
| XM_011525094.1:c.742A>G | XP_011523396.1:p.Ser248Gly | |
| XR_934513.1:n.1308A>G | ||
| XR_934886.1:n.149+3890T>C | ||
| XM_006722001.4:c.1093A>G | XP_006722064.1:p.Ser365Gly | |
| XM_006722002.4:c.1029A>G | XP_006722065.1:p.Ter343Trp | |
| XM_006722004.3:c.742A>G | XP_006722067.1:p.Ser248Gly | |
| XM_006722005.3:c.742A>G | XP_006722068.1:p.Ser248Gly | |
| XM_011525092.2:c.742A>G | XP_011523394.1:p.Ser248Gly | |
| XM_011525093.2:c.742A>G | XP_011523395.1:p.Ser248Gly | |
| XM_011525094.2:c.742A>G | XP_011523396.1:p.Ser248Gly | |
| XM_017024914.1:c.739A>G | XP_016880403.1:p.Ser247Gly | |
| XM_017024915.1:c.739A>G | XP_016880404.1:p.Ser247Gly | |
| XM_017024916.1:c.739A>G | XP_016880405.1:p.Ser247Gly | |
| XM_017024917.1:c.739A>G | XP_016880406.1:p.Ser247Gly | |
| XM_017024918.2:c.739A>G | XP_016880407.1:p.Ser247Gly | |
| XM_017024919.1:c.678A>G | XP_016880408.1:p.Ter226Trp | |
| XR_934513.3:n.1739A>G | ||
| XR_934886.2:n.149+3890T>C | ||
| NM_058216.3:c.1090A>G MANE Select | NP_478123.1:p.Ser364Gly | |
| NR_103872.2:n.965A>G |