Linked Data
dbSNP Id:
rs62026376
gnomAD v2:
16-11228712-C-T
gnomAD v3:
16-11134855-C-T
gnomAD v4:
16-11134855-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11134855C>T , CM000678.2:g.11134855C>T | GRCh38 |
| NC_000016.9:g.11228712C>T , CM000678.1:g.11228712C>T | GRCh37 |
| NC_000016.8:g.11136213C>T | NCBI36 |
| NG_016757.1:g.195368C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703130.1:c.2635+8709C>T | ENSP00000515187.1:n.2635+8709C>T | |
| ENST00000409790.6:c.2641+8709C>T MANE Select | ENSP00000387122.1:n.2641+8709C>T | |
| ENST00000646363.1:n.1303-1214C>T | ||
| ENST00000261657.5:c.215+8709C>T | ||
| ENST00000409790.5:c.2641+8709C>T | ENSP00000387122.1:n.2641+8709C>T | |
| ENST00000428742.6:c.372+8709C>T | ||
| ENST00000436973.5:c.220+8709C>T | ENSP00000389963.1:n.220+8709C>T | |
| ENST00000459723.1:n.137+8709C>T | ||
| NM_015226.2:c.2641+8709C>T | NP_056041.1:n.2641+8709C>T | |
| XM_005255210.1:c.2635+8709C>T | XP_005255267.1:n.2635+8709C>T | |
| XM_005255211.1:c.2593+8709C>T | XP_005255268.1:n.2593+8709C>T | |
| XM_005255213.1:c.2587+8709C>T | XP_005255270.1:n.2587+8709C>T | |
| XM_005255214.1:c.2641+8709C>T | XP_005255271.1:n.2641+8709C>T | |
| XM_005255215.3:c.2641+8709C>T | XP_005255272.1:n.2641+8709C>T | |
| XM_005255216.1:c.2641+8709C>T | XP_005255273.1:n.2641+8709C>T | |
| XM_011522434.1:c.2512+8709C>T | XP_011520736.1:n.2512+8709C>T | |
| XM_011522435.1:c.2641+8709C>T | XP_011520737.1:n.2641+8709C>T | |
| XM_011522436.1:c.2642-404C>T | XP_011520738.1:n.2642-404C>T | |
| XM_011522437.1:c.2642-404C>T | XP_011520739.1:n.2642-404C>T | |
| XM_011522438.1:c.2641+8709C>T | XP_011520740.1:n.2641+8709C>T | |
| XM_011522439.1:c.2642-1214C>T | XP_011520741.1:n.2642-1214C>T | |
| XM_011522440.1:c.2642-1217C>T | XP_011520742.1:n.2642-1217C>T | |
| XR_932810.1:n.2865+8709C>T | ||
| XM_005255210.2:c.2635+8709C>T | XP_005255267.1:n.2635+8709C>T | |
| XM_005255211.2:c.2593+8709C>T | XP_005255268.1:n.2593+8709C>T | |
| XM_005255213.2:c.2587+8709C>T | XP_005255270.1:n.2587+8709C>T | |
| XM_005255214.2:c.2641+8709C>T | XP_005255271.1:n.2641+8709C>T | |
| XM_005255215.4:c.2641+8709C>T | XP_005255272.1:n.2641+8709C>T | |
| XM_005255216.2:c.2641+8709C>T | XP_005255273.1:n.2641+8709C>T | |
| XM_011522434.2:c.2512+8709C>T | XP_011520736.1:n.2512+8709C>T | |
| XM_011522435.2:c.2641+8709C>T | XP_011520737.1:n.2641+8709C>T | |
| XM_011522436.3:c.2642-404C>T | XP_011520738.1:n.2642-404C>T | |
| XM_011522437.3:c.2642-404C>T | XP_011520739.1:n.2642-404C>T | |
| XM_011522438.3:c.2641+8709C>T | XP_011520740.1:n.2641+8709C>T | |
| XM_011522439.3:c.2642-1214C>T | XP_011520741.1:n.2642-1214C>T | |
| XM_011522440.3:c.2642-1217C>T | XP_011520742.1:n.2642-1217C>T | |
| XM_017023090.2:c.1126+8709C>T | XP_016878579.1:n.1126+8709C>T | |
| XM_024450218.1:c.2593+8709C>T | XP_024305986.1:n.2593+8709C>T | |
| XM_024450219.1:c.1192+8709C>T | XP_024305987.1:n.1192+8709C>T | |
| XR_001752081.1:n.284+108G>A | ||
| XR_932810.3:n.2820+8709C>T | ||
| NM_015226.3:c.2641+8709C>T MANE Select | NP_056041.1:n.2641+8709C>T |