Linked Data
dbSNP Id:
rs17673553
gnomAD v2:
16-11241906-A-G
gnomAD v3:
16-11148049-A-G
gnomAD v4:
16-11148049-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11148049A>G , CM000678.2:g.11148049A>G | GRCh38 |
| NC_000016.9:g.11241906A>G , CM000678.1:g.11241906A>G | GRCh37 |
| NC_000016.8:g.11149407A>G | NCBI36 |
| NG_016757.1:g.208562A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703130.1:c.2636-18339A>G | ENSP00000515187.1:n.2636-18339A>G | |
| ENST00000409790.6:c.2642-18339A>G MANE Select | ENSP00000387122.1:n.2642-18339A>G | |
| ENST00000261657.5:c.216-18339A>G | ||
| ENST00000409790.5:c.2642-18339A>G | ENSP00000387122.1:n.2642-18339A>G | |
| ENST00000428742.6:c.373-9028A>G | ||
| ENST00000436973.5:c.221-8525A>G | ENSP00000389963.1:n.221-8525A>G | |
| ENST00000459723.1:n.138-1837A>G | ||
| NM_015226.2:c.2642-18339A>G | NP_056041.1:n.2642-18339A>G | |
| XM_005255210.1:c.2636-18339A>G | XP_005255267.1:n.2636-18339A>G | |
| XM_005255211.1:c.2594-18339A>G | XP_005255268.1:n.2594-18339A>G | |
| XM_005255213.1:c.2588-18339A>G | XP_005255270.1:n.2588-18339A>G | |
| XM_005255214.1:c.2641+21903A>G | XP_005255271.1:n.2641+21903A>G | |
| XM_005255215.3:c.2642-8525A>G | XP_005255272.1:n.2642-8525A>G | |
| XM_005255216.1:c.2642-9028A>G | XP_005255273.1:n.2642-9028A>G | |
| XM_011522434.1:c.2513-18339A>G | XP_011520736.1:n.2513-18339A>G | |
| XM_011522435.1:c.2642-18339A>G | XP_011520737.1:n.2642-18339A>G | |
| XM_011522438.1:c.2642-1837A>G | XP_011520740.1:n.2642-1837A>G | |
| XR_932810.1:n.2866-18339A>G | ||
| XM_005255210.2:c.2636-18339A>G | XP_005255267.1:n.2636-18339A>G | |
| XM_005255211.2:c.2594-18339A>G | XP_005255268.1:n.2594-18339A>G | |
| XM_005255213.2:c.2588-18339A>G | XP_005255270.1:n.2588-18339A>G | |
| XM_005255214.2:c.2641+21903A>G | XP_005255271.1:n.2641+21903A>G | |
| XM_005255215.4:c.2642-8525A>G | XP_005255272.1:n.2642-8525A>G | |
| XM_005255216.2:c.2642-9028A>G | XP_005255273.1:n.2642-9028A>G | |
| XM_011522434.2:c.2513-18339A>G | XP_011520736.1:n.2513-18339A>G | |
| XM_011522435.2:c.2642-18339A>G | XP_011520737.1:n.2642-18339A>G | |
| XM_011522438.3:c.2642-1837A>G | XP_011520740.1:n.2642-1837A>G | |
| XM_017023090.2:c.1127-18339A>G | XP_016878579.1:n.1127-18339A>G | |
| XM_024450218.1:c.2594-8525A>G | XP_024305986.1:n.2594-8525A>G | |
| XM_024450219.1:c.1193-18339A>G | XP_024305987.1:n.1193-18339A>G | |
| XR_932810.3:n.2821-18339A>G | ||
| NM_015226.3:c.2642-18339A>G MANE Select | NP_056041.1:n.2642-18339A>G |