Linked Data
dbSNP Id:
rs10905868
gnomAD v2:
10-10974256-A-G
gnomAD v3:
10-10932293-A-G
gnomAD v4:
10-10932293-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.10932293A>G , CM000672.2:g.10932293A>G | GRCh38 |
| NC_000010.10:g.10974256A>G , CM000672.1:g.10974256A>G | GRCh37 |
| NC_000010.9:g.11014262A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636488.1:c.89+12294A>G | ENSP00000489955.1:n.89+12294A>G | |
| ENST00000637215.1:c.89+12294A>G | ENSP00000490185.1:n.89+12294A>G | |
| ENST00000638035.1:c.-20+12294A>G | ENSP00000490401.1:n.-20+12294A>G | |
| NM_001326317.1:c.-20+12294A>G | NP_001313246.1:n.-20+12294A>G | |
| NM_001326318.1:c.-20+12294A>G | NP_001313247.1:n.-20+12294A>G | |
| NM_001326319.1:c.-57-8124A>G | NP_001313248.1:n.-57-8124A>G | |
| NM_001326320.1:c.-20+12294A>G | NP_001313249.1:n.-20+12294A>G | |
| NM_001326321.1:c.-20+12294A>G | NP_001313250.1:n.-20+12294A>G | |
| NM_001326323.1:c.-20+12294A>G | NP_001313252.1:n.-20+12294A>G | |
| NM_001326324.1:c.-20+12294A>G | NP_001313253.1:n.-20+12294A>G | |
| NM_001326325.1:c.146+12294A>G | NP_001313254.1:n.146+12294A>G | |
| NM_001326326.1:c.89+12294A>G | NP_001313255.1:n.89+12294A>G | |
| NM_001326327.1:c.89+12294A>G | NP_001313256.1:n.89+12294A>G | |
| NM_001326328.1:c.-20+12294A>G | NP_001313257.1:n.-20+12294A>G | |
| XM_017015557.1:c.-198+12294A>G | XP_016871046.1:n.-198+12294A>G | |
| XM_017015568.2:c.-552+12294A>G | XP_016871057.1:n.-552+12294A>G | |
| XM_024447772.1:c.146+12294A>G | XP_024303540.1:n.146+12294A>G | |
| XM_024447773.1:c.89+12294A>G | XP_024303541.1:n.89+12294A>G | |
| XM_024447774.1:c.89+12294A>G | XP_024303542.1:n.89+12294A>G | |
| XM_024447775.1:c.89+12294A>G | XP_024303543.1:n.89+12294A>G | |
| NM_001326317.2:c.-20+12294A>G | NP_001313246.1:n.-20+12294A>G | |
| NM_001326318.2:c.-20+12294A>G | NP_001313247.1:n.-20+12294A>G | |
| NM_001326319.2:c.-57-8124A>G | NP_001313248.1:n.-57-8124A>G | |
| NM_001326320.2:c.-20+12294A>G | NP_001313249.1:n.-20+12294A>G | |
| NM_001326321.2:c.-20+12294A>G | NP_001313250.1:n.-20+12294A>G | |
| NM_001326323.2:c.-20+12294A>G | NP_001313252.1:n.-20+12294A>G | |
| NM_001326324.2:c.-20+12294A>G | NP_001313253.1:n.-20+12294A>G | |
| NM_001326325.2:c.146+12294A>G | NP_001313254.1:n.146+12294A>G | |
| NM_001326326.2:c.89+12294A>G | NP_001313255.1:n.89+12294A>G | |
| NM_001326327.2:c.89+12294A>G | NP_001313256.1:n.89+12294A>G | |
| NM_001326328.2:c.-20+12294A>G | NP_001313257.1:n.-20+12294A>G |