gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.9789088T>C , CM000666.2:g.9789088T>C | GRCh38 |
| NC_000004.11:g.9790712T>C , CM000666.1:g.9790712T>C | GRCh37 |
| NC_000004.10:g.9399810T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503803.5:n.386-9023A>G | ||
| ENST00000508585.5:n.182-17719A>G | ||
| XM_006713968.2:c.1601-9023A>G | XP_006714031.1:n.1601-9023A>G | |
| XM_011513856.1:c.1420-9023A>G | XP_011512158.1:n.1420-9023A>G | |
| XM_011513857.1:c.1333-9023A>G | XP_011512159.1:n.1333-9023A>G | |
| XM_011513858.1:c.1333-9023A>G | XP_011512160.1:n.1333-9023A>G | |
| XM_011513862.1:c.1024-9023A>G | XP_011512164.1:n.1024-9023A>G | |
| XM_011513863.1:c.1024-9023A>G | XP_011512165.1:n.1024-9023A>G | |
| XM_011513864.1:c.1012-9023A>G | XP_011512166.1:n.1012-9023A>G | |
| XM_011513867.1:c.862-9023A>G | XP_011512169.1:n.862-9023A>G | |
| XR_925341.1:n.1697-9023A>G | ||
| XM_006713968.4:c.1601-9023A>G | XP_006714031.1:n.1601-9023A>G | |
| XM_011513856.3:c.1420-9023A>G | XP_011512158.1:n.1420-9023A>G | |
| XM_011513862.3:c.1024-9023A>G | XP_011512164.1:n.1024-9023A>G | |
| XM_011513864.2:c.1012-9023A>G | XP_011512166.1:n.1012-9023A>G | |
| XM_011513867.3:c.862-9023A>G | XP_011512169.1:n.862-9023A>G | |
| XM_017008457.2:c.1601-17719A>G | XP_016863946.1:n.1601-17719A>G | |
| XM_017008459.1:c.958-9023A>G | XP_016863948.1:n.958-9023A>G | |
| XM_024454151.1:c.1033-9023A>G | XP_024309919.1:n.1033-9023A>G | |
| XR_925341.3:n.1778-9023A>G |