Linked Data
dbSNP Id:
rs552993705
gnomAD v2:
8-6352396-A-G
gnomAD v3:
8-6494875-A-G
gnomAD v4:
8-6494875-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6494875A>G , CM000670.2:g.6494875A>G | GRCh38 |
| NC_000008.10:g.6352396A>G , CM000670.1:g.6352396A>G | GRCh37 |
| NC_000008.9:g.6339804A>G | NCBI36 |
| NG_016619.1:g.93284A>G | |
| NG_016619.2:g.93284A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000519221.6:n.363-4977A>G | ||
| ENST00000521129.2:c.184-4977A>G | ENSP00000509664.1:n.184-4977A>G | |
| ENST00000521175.2:n.860-4977A>G | ||
| ENST00000687324.1:n.1075-4977A>G | ||
| ENST00000687413.1:c.226-4977A>G | ENSP00000510583.1:n.226-4977A>G | |
| ENST00000687720.1:c.*2085-4977A>G | ENSP00000510728.1:n.*2085-4977A>G | |
| ENST00000688101.1:c.2294-4977A>G | ||
| ENST00000688388.1:c.*126-4977A>G | ENSP00000510092.1:n.*126-4977A>G | |
| ENST00000688912.1:n.2148-4977A>G | ||
| ENST00000689148.1:n.1097-4977A>G | ||
| ENST00000689348.1:c.2137-4977A>G | ENSP00000509554.1:n.2137-4977A>G | |
| ENST00000689633.1:c.1935+39623A>G | ENSP00000509054.1:n.1935+39623A>G | |
| ENST00000689736.1:c.781-4977A>G | ENSP00000509722.1:n.781-4977A>G | |
| ENST00000690159.1:c.*2416-4977A>G | ENSP00000510482.1:n.*2416-4977A>G | |
| ENST00000690708.1:c.982-4977A>G | ENSP00000510400.1:n.982-4977A>G | |
| ENST00000690826.1:c.2137-4977A>G | ENSP00000510536.1:n.2137-4977A>G | |
| ENST00000691435.1:c.2137-4977A>G | ENSP00000510652.1:n.2137-4977A>G | |
| ENST00000691655.1:c.*1074-4977A>G | ENSP00000509652.1:n.*1074-4977A>G | |
| ENST00000692836.1:c.2137-4977A>G | ENSP00000509971.1:n.2137-4977A>G | |
| ENST00000692938.1:c.2137-4977A>G | ENSP00000509072.1:n.2137-4977A>G | |
| ENST00000693231.1:c.*1675+39623A>G | ENSP00000510764.1:n.*1675+39623A>G | |
| ENST00000344683.10:c.2137-4977A>G MANE Select | ENSP00000342924.5:n.2137-4977A>G | |
| ENST00000344683.9:c.2137-4977A>G | ENSP00000342924.5:n.2137-4977A>G | |
| ENST00000519221.5:n.244-4977A>G | ||
| ENST00000521129.1:n.295-4977A>G | ||
| NM_024596.3:c.2137-4977A>G | NP_078872.2:n.2137-4977A>G | |
| XM_011534755.1:c.2137-4977A>G | XP_011533057.1:n.2137-4977A>G | |
| XM_011534756.1:c.2137-4977A>G | XP_011533058.1:n.2137-4977A>G | |
| XM_011534757.1:c.2137-4977A>G | XP_011533059.1:n.2137-4977A>G | |
| XM_011534758.1:c.2137-4977A>G | XP_011533060.1:n.2137-4977A>G | |
| XM_011534759.1:c.2137-4977A>G | XP_011533061.1:n.2137-4977A>G | |
| XM_011534760.1:c.1612-4977A>G | XP_011533062.1:n.1612-4977A>G | |
| NM_001322042.1:c.2137-4977A>G | NP_001308971.1:n.2137-4977A>G | |
| NM_001363979.1:c.2137-4977A>G | NP_001350908.1:n.2137-4977A>G | |
| NM_001363980.1:c.1935+39623A>G | NP_001350909.1:n.1935+39623A>G | |
| NM_024596.4:c.2137-4977A>G | NP_078872.2:n.2137-4977A>G | |
| XM_011534755.3:c.2137-4977A>G | XP_011533057.1:n.2137-4977A>G | |
| XM_011534756.3:c.2137-4977A>G | XP_011533058.1:n.2137-4977A>G | |
| XM_011534757.3:c.2137-4977A>G | XP_011533059.1:n.2137-4977A>G | |
| XM_011534758.3:c.2137-4977A>G | XP_011533060.1:n.2137-4977A>G | |
| XM_011534759.3:c.2137-4977A>G | XP_011533061.1:n.2137-4977A>G | |
| XM_011534760.2:c.1612-4977A>G | XP_011533062.1:n.1612-4977A>G | |
| XM_017013829.2:c.2137-4977A>G | XP_016869318.1:n.2137-4977A>G | |
| XM_017013831.2:c.1936-4977A>G | XP_016869320.1:n.1936-4977A>G | |
| XM_017013832.2:c.1935+39623A>G | XP_016869321.1:n.1935+39623A>G | |
| XM_017013833.2:c.2137-4977A>G | XP_016869322.1:n.2137-4977A>G | |
| XR_001745596.2:n.2190-4977A>G | ||
| NM_024596.5:c.2137-4977A>G MANE Select | NP_078872.3:n.2137-4977A>G | |
| NM_001322042.2:c.2137-4977A>G | NP_001308971.2:n.2137-4977A>G | |
| NM_001363980.2:c.1935+39623A>G | NP_001350909.1:n.1935+39623A>G |