Linked Data
ClinVar Variation Id:
294512
dbSNP Id:
rs190778135
ExAC:
1:196710998 A / G
gnomAD v2:
1-196710998-A-G
gnomAD v3:
1-196741868-A-G
gnomAD v4:
1-196741868-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196741868A>G , CM000663.2:g.196741868A>G | GRCh38 |
| NC_000001.10:g.196710998A>G , CM000663.1:g.196710998A>G | GRCh37 |
| NC_000001.9:g.194977621A>G | NCBI36 |
| NG_007259.1:g.94858A>G , LRG_47:g.94858A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.3985-7A>G | ||
| ENST00000695970.1:c.2783-7A>G | ENSP00000512297.1:n.2783-7A>G | |
| ENST00000695971.1:c.2936-7A>G | ENSP00000512298.1:n.2936-7A>G | |
| ENST00000695972.1:c.*34-7A>G | ENSP00000512299.1:n.*34-7A>G | |
| ENST00000695973.1:c.*1321-7A>G | ENSP00000512300.1:n.*1321-7A>G | |
| ENST00000695974.1:c.2780-7A>G | ENSP00000512301.1:n.2780-7A>G | |
| ENST00000695975.1:c.*1084-7A>G | ENSP00000512302.1:n.*1084-7A>G | |
| ENST00000695976.1:c.2768-7A>G | ENSP00000512303.1:n.2768-7A>G | |
| ENST00000695981.1:c.2957-7A>G | ENSP00000512306.1:n.2957-7A>G | |
| ENST00000695983.1:c.2863-7A>G | ENSP00000512308.1:n.2863-7A>G | |
| ENST00000695984.1:c.965-7A>G | ENSP00000512309.1:n.965-7A>G | |
| ENST00000695986.1:c.*2608-7A>G | ENSP00000512311.1:n.*2608-7A>G | |
| ENST00000696025.1:n.3094-7A>G | ||
| ENST00000696026.1:c.*1239-7A>G | ENSP00000512335.1:n.*1239-7A>G | |
| ENST00000696027.1:c.2951-7A>G | ENSP00000512336.1:n.2951-7A>G | |
| ENST00000696028.1:c.2885-7A>G | ENSP00000512337.1:n.2885-7A>G | |
| ENST00000696029.1:c.2957-13A>G | ENSP00000512338.1:n.2957-13A>G | |
| ENST00000696031.1:c.*2475-7A>G | ENSP00000512340.1:n.*2475-7A>G | |
| ENST00000696032.1:c.2957-7A>G | ENSP00000512341.1:n.2957-7A>G | |
| ENST00000696033.1:c.1160-37929A>G | ENSP00000512342.1:n.1160-37929A>G | |
| ENST00000367429.9:c.2957-7A>G MANE Select | ENSP00000356399.4:n.2957-7A>G | |
| ENST00000367429.8:c.2957-7A>G | ENSP00000356399.4:n.2957-7A>G | |
| ENST00000466229.5:n.6048A>G | ||
| NM_000186.3:c.2957-7A>G , LRG_47t1:c.2957-7A>G | NP_000177.2:n.2957-7A>G | |
| XR_001737134.2:n.3143-7A>G | ||
| NM_000186.4:c.2957-7A>G MANE Select | NP_000177.2:n.2957-7A>G |