Linked Data
dbSNP Id:
rs775623573
ExAC:
3:123009953 T / C
gnomAD v2:
3-123009953-T-C
gnomAD v3:
3-123291106-T-C
gnomAD v4:
3-123291106-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123291106T>C , CM000665.2:g.123291106T>C | GRCh38 |
| NC_000003.11:g.123009953T>C , CM000665.1:g.123009953T>C | GRCh37 |
| NC_000003.10:g.124492643T>C | NCBI36 |
| NG_033882.1:g.162440A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466617.6:c.2004+7A>G | ENSP00000420082.2:n.2004+7A>G | |
| ENST00000470367.2:c.2292+7A>G | ENSP00000514541.1:n.2292+7A>G | |
| ENST00000483566.2:c.2004+7A>G | ENSP00000420252.2:n.2004+7A>G | |
| ENST00000699714.1:c.2004+7A>G | ENSP00000514539.1:n.2004+7A>G | |
| ENST00000699715.1:c.2004+7A>G | ENSP00000514540.1:n.2004+7A>G | |
| ENST00000699716.1:c.2004+7A>G | ENSP00000514542.1:n.2004+7A>G | |
| ENST00000699717.1:n.1730+7A>G | ||
| ENST00000699718.1:c.3402+7A>G | ENSP00000514543.1:n.3402+7A>G | |
| ENST00000462833.6:c.3327+7A>G MANE Select | ENSP00000419361.1:n.3327+7A>G | |
| ENST00000309879.9:c.2277+7A>G | ENSP00000308685.5:n.2277+7A>G | |
| ENST00000462833.5:c.3327+7A>G | ENSP00000419361.1:n.3327+7A>G | |
| ENST00000491190.5:c.2301+7A>G | ENSP00000418537.1:n.2301+7A>G | |
| NM_001199642.1:c.2277+7A>G | NP_001186571.1:n.2277+7A>G | |
| NM_183357.2:c.3327+7A>G | NP_899200.1:n.3327+7A>G | |
| XM_005247077.2:c.3402+7A>G | XP_005247134.1:n.3402+7A>G | |
| XM_005247078.1:c.2352+7A>G | XP_005247135.1:n.2352+7A>G | |
| XM_006713483.1:c.2301+7A>G | XP_006713546.1:n.2301+7A>G | |
| XM_006713484.1:c.2079+7A>G | XP_006713547.1:n.2079+7A>G | |
| XM_011512359.1:c.2403+7A>G | XP_011510661.1:n.2403+7A>G | |
| XM_011512360.1:c.2313+7A>G | XP_011510662.1:n.2313+7A>G | |
| XM_011512361.1:c.2079+7A>G | XP_011510663.1:n.2079+7A>G | |
| XM_005247077.4:c.3402+7A>G | XP_005247134.1:n.3402+7A>G | |
| XM_011512359.2:c.2403+7A>G | XP_011510661.1:n.2403+7A>G | |
| XM_011512360.3:c.2313+7A>G | XP_011510662.1:n.2313+7A>G | |
| XM_017005638.1:c.2304+7A>G | XP_016861127.1:n.2304+7A>G | |
| XM_017005639.1:c.2304+7A>G | XP_016861128.1:n.2304+7A>G | |
| NM_001378259.1:c.3402+7A>G | NP_001365188.1:n.3402+7A>G | |
| NM_183357.3:c.3327+7A>G MANE Select | NP_899200.1:n.3327+7A>G |