Linked Data
dbSNP Id:
rs735665
gnomAD v2:
11-123361397-G-A
gnomAD v3:
11-123490689-G-A
gnomAD v4:
11-123490689-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123490689G>A , CM000673.2:g.123490689G>A | GRCh38 |
| NC_000011.9:g.123361397G>A , CM000673.1:g.123361397G>A | GRCh37 |
| NC_000011.8:g.122866607G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000635736.2:c.452+9796G>A MANE Select | ENSP00000490062.1:n.452+9796G>A | |
| ENST00000635736.1:c.452+9796G>A | ENSP00000490062.1:n.452+9796G>A | |
| ENST00000638157.1:c.-98+9796G>A | ENSP00000489896.1:n.-98+9796G>A | |
| ENST00000633087.1:c.92+9796G>A | ENSP00000488613.1:n.92+9796G>A | |
| ENST00000633646.1:c.-98+9796G>A | ENSP00000488382.1:n.-98+9796G>A | |
| XM_005271621.3:c.-98+9796G>A | XP_005271678.1:n.-98+9796G>A | |
| XM_005271622.3:c.113+9796G>A | XP_005271679.2:n.113+9796G>A | |
| XM_006718892.2:c.152+9796G>A | XP_006718955.1:n.152+9796G>A | |
| XM_011542926.1:c.149+9796G>A | XP_011541228.1:n.149+9796G>A | |
| XM_011542928.1:c.-98+9796G>A | XP_011541230.1:n.-98+9796G>A | |
| XM_011542934.1:c.-98+9796G>A | XP_011541236.1:n.-98+9796G>A | |
| XM_005271621.4:c.-98+9796G>A | XP_005271678.1:n.-98+9796G>A | |
| XM_006718892.3:c.152+9796G>A | XP_006718955.1:n.152+9796G>A | |
| XM_011542926.2:c.149+9796G>A | XP_011541228.1:n.149+9796G>A | |
| XM_017018039.1:c.104+9796G>A | XP_016873528.1:n.104+9796G>A | |
| XM_017018040.1:c.74+70346G>A | XP_016873529.1:n.74+70346G>A | |
| XM_017018041.1:c.104+9796G>A | XP_016873530.1:n.104+9796G>A | |
| XM_017018042.1:c.104+9796G>A | XP_016873531.1:n.104+9796G>A | |
| XM_017018045.1:c.-98+9796G>A | XP_016873534.1:n.-98+9796G>A | |
| XM_024448622.1:c.27-86678G>A | XP_024304390.1:n.27-86678G>A | |
| NM_001367418.1:c.104+9796G>A | NP_001354347.1:n.104+9796G>A | |
| NM_001367419.1:c.104+9796G>A | NP_001354348.1:n.104+9796G>A | |
| NM_001367420.1:c.104+9796G>A | NP_001354349.1:n.104+9796G>A | |
| NM_001367421.1:c.320+9796G>A | NP_001354350.1:n.320+9796G>A | |
| NM_001367421.2:c.320+9796G>A | NP_001354350.1:n.320+9796G>A | |
| NM_001367418.2:c.104+9796G>A | NP_001354347.1:n.104+9796G>A | |
| NM_001367419.2:c.104+9796G>A | NP_001354348.1:n.104+9796G>A | |
| NM_001367420.2:c.104+9796G>A | NP_001354349.1:n.104+9796G>A | |
| NM_001387024.1:c.452+9796G>A | NP_001373953.1:n.452+9796G>A | |
| NM_001387025.1:c.452+9796G>A MANE Select | NP_001373954.1:n.452+9796G>A | |
| NM_001387026.1:c.449+9796G>A | NP_001373955.1:n.449+9796G>A | |
| NM_001387030.1:c.-98+9796G>A | NP_001373959.1:n.-98+9796G>A | |
| NM_001387034.1:c.-98+9796G>A | NP_001373963.1:n.-98+9796G>A |