Linked Data
dbSNP Id:
rs11717195
gnomAD v2:
3-123082398-T-C
gnomAD v3:
3-123363551-T-C
gnomAD v4:
3-123363551-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123363551T>C , CM000665.2:g.123363551T>C | GRCh38 |
| NC_000003.11:g.123082398T>C , CM000665.1:g.123082398T>C | GRCh37 |
| NC_000003.10:g.124565088T>C | NCBI36 |
| NG_033882.1:g.89995A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000466617.6:c.-189-10970A>G | ENSP00000420082.2:n.-189-10970A>G | |
| ENST00000470367.2:c.100-10970A>G | ENSP00000514541.1:n.100-10970A>G | |
| ENST00000483566.2:c.-189-10970A>G | ENSP00000420252.2:n.-189-10970A>G | |
| ENST00000699714.1:c.-189-10970A>G | ENSP00000514539.1:n.-189-10970A>G | |
| ENST00000699715.1:c.-189-10970A>G | ENSP00000514540.1:n.-189-10970A>G | |
| ENST00000699716.1:c.-189-10970A>G | ENSP00000514542.1:n.-189-10970A>G | |
| ENST00000699718.1:c.1135-10970A>G | ENSP00000514543.1:n.1135-10970A>G | |
| ENST00000462833.6:c.1135-10970A>G MANE Select | ENSP00000419361.1:n.1135-10970A>G | |
| ENST00000309879.9:c.85-10970A>G | ENSP00000308685.5:n.85-10970A>G | |
| ENST00000462833.5:c.1135-10970A>G | ENSP00000419361.1:n.1135-10970A>G | |
| ENST00000466617.5:c.-189-10970A>G | ENSP00000420082.1:n.-189-10970A>G | |
| ENST00000470367.1:n.430-10970A>G | ||
| ENST00000476455.1:c.38+4349A>G | ENSP00000417789.1:n.38+4349A>G | |
| ENST00000483566.1:c.-189-10970A>G | ENSP00000420252.1:n.-189-10970A>G | |
| ENST00000491190.5:c.33+4354A>G | ENSP00000418537.1:n.33+4354A>G | |
| NM_001199642.1:c.85-10970A>G | NP_001186571.1:n.85-10970A>G | |
| NM_183357.2:c.1135-10970A>G | NP_899200.1:n.1135-10970A>G | |
| XM_005247077.2:c.1135-10970A>G | XP_005247134.1:n.1135-10970A>G | |
| XM_005247078.1:c.85-10970A>G | XP_005247135.1:n.85-10970A>G | |
| XM_006713483.1:c.33+4354A>G | XP_006713546.1:n.33+4354A>G | |
| XM_006713484.1:c.-189-10970A>G | XP_006713547.1:n.-189-10970A>G | |
| XM_011512358.1:c.1135-10970A>G | XP_011510660.1:n.1135-10970A>G | |
| XM_011512359.1:c.136-10970A>G | XP_011510661.1:n.136-10970A>G | |
| XM_011512361.1:c.-189-10970A>G | XP_011510663.1:n.-189-10970A>G | |
| XM_005247077.4:c.1135-10970A>G | XP_005247134.1:n.1135-10970A>G | |
| XM_011512359.2:c.136-10970A>G | XP_011510661.1:n.136-10970A>G | |
| XM_017005638.1:c.37-10970A>G | XP_016861127.1:n.37-10970A>G | |
| XM_017005639.1:c.37-10970A>G | XP_016861128.1:n.37-10970A>G | |
| NM_001378259.1:c.1135-10970A>G | NP_001365188.1:n.1135-10970A>G | |
| NM_183357.3:c.1135-10970A>G MANE Select | NP_899200.1:n.1135-10970A>G |