Linked Data
dbSNP Id:
rs757786523
ExAC:
5:90119433 A / G
gnomAD v2:
5-90119433-A-G
gnomAD v4:
5-90823616-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823616A>G , CM000667.2:g.90823616A>G | GRCh38 |
| NC_000005.9:g.90119433A>G , CM000667.1:g.90119433A>G | GRCh37 |
| NC_000005.8:g.90155189A>G | NCBI36 |
| NG_007083.1:g.269817A>G | |
| NG_007083.2:g.299273A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16368+20A>G MANE Select | ENSP00000384582.2:n.16368+20A>G | |
| ENST00000425867.3:c.5322+20A>G | ENSP00000392618.3:n.5322+20A>G | |
| ENST00000638510.1:n.3635+20A>G | ||
| ENST00000639431.1:c.265+147407A>G | ENSP00000491057.1:n.265+147407A>G | |
| ENST00000640061.1:n.128+1434A>G | ||
| ENST00000640407.1:c.2778+20A>G | ENSP00000491425.1:n.2778+20A>G | |
| ENST00000405460.6:c.16368+20A>G | ENSP00000384582.2:n.16368+20A>G | |
| ENST00000425867.2:c.3351+20A>G | ENSP00000392618.2:n.3351+20A>G | |
| NM_032119.3:c.16368+20A>G | NP_115495.3:n.16368+20A>G | |
| NR_003149.1:n.16381+20A>G | ||
| XM_011543675.1:c.16365+20A>G | XP_011541977.1:n.16365+20A>G | |
| XM_011543676.1:c.16287+20A>G | XP_011541978.1:n.16287+20A>G | |
| XM_011543677.1:c.13671+20A>G | XP_011541979.1:n.13671+20A>G | |
| NM_032119.4:c.16368+20A>G MANE Select | NP_115495.3:n.16368+20A>G | |
| XM_017009963.2:c.16389+20A>G | XP_016865452.1:n.16389+20A>G | |
| XM_017009964.2:c.16386+20A>G | XP_016865453.1:n.16386+20A>G | |
| XM_017009965.1:c.16386+20A>G | XP_016865454.1:n.16386+20A>G | |
| XM_017009966.2:c.16308+20A>G | XP_016865455.1:n.16308+20A>G | |
| XM_017009967.1:c.16293+20A>G | XP_016865456.1:n.16293+20A>G | |
| XM_017009968.2:c.16209+20A>G | XP_016865457.1:n.16209+20A>G | |
| XM_017009969.2:c.16389+20A>G | XP_016865458.1:n.16389+20A>G | |
| XM_017009972.1:c.9507+20A>G | XP_016865461.1:n.9507+20A>G | |
| XM_017009973.1:c.9486+20A>G | XP_016865462.1:n.9486+20A>G | |
| NR_003149.2:n.16384+20A>G |