Linked Data
dbSNP Id:
rs1470609922
gnomAD v2:
1-196712762-G-A
gnomAD v3:
1-196743632-G-A
gnomAD v4:
1-196743632-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196743632G>A , CM000663.2:g.196743632G>A | GRCh38 |
| NC_000001.10:g.196712762G>A , CM000663.1:g.196712762G>A | GRCh37 |
| NC_000001.9:g.194979385G>A | NCBI36 |
| NG_007259.1:g.96622G>A , LRG_47:g.96622G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4338+4G>A | ||
| ENST00000695970.1:c.3136+4G>A | ENSP00000512297.1:n.3136+4G>A | |
| ENST00000695971.1:c.3289+4G>A | ENSP00000512298.1:n.3289+4G>A | |
| ENST00000695972.1:c.*387+4G>A | ENSP00000512299.1:n.*387+4G>A | |
| ENST00000695973.1:c.*1674+4G>A | ENSP00000512300.1:n.*1674+4G>A | |
| ENST00000695974.1:c.3133+4G>A | ENSP00000512301.1:n.3133+4G>A | |
| ENST00000695975.1:c.*1437+4G>A | ENSP00000512302.1:n.*1437+4G>A | |
| ENST00000695976.1:c.3121+4G>A | ENSP00000512303.1:n.3121+4G>A | |
| ENST00000695981.1:c.3310+4G>A | ENSP00000512306.1:n.3310+4G>A | |
| ENST00000695984.1:c.1318+4G>A | ENSP00000512309.1:n.1318+4G>A | |
| ENST00000695986.1:c.*2961+4G>A | ENSP00000512311.1:n.*2961+4G>A | |
| ENST00000696026.1:c.*1592+4G>A | ENSP00000512335.1:n.*1592+4G>A | |
| ENST00000696027.1:c.3304+4G>A | ENSP00000512336.1:n.3304+4G>A | |
| ENST00000696028.1:c.3238+4G>A | ENSP00000512337.1:n.3238+4G>A | |
| ENST00000696029.1:c.3304+4G>A | ENSP00000512338.1:n.3304+4G>A | |
| ENST00000696031.1:c.*2828+4G>A | ENSP00000512340.1:n.*2828+4G>A | |
| ENST00000696032.1:c.3310+4G>A | ENSP00000512341.1:n.3310+4G>A | |
| ENST00000696033.1:c.1160-36165G>A | ENSP00000512342.1:n.1160-36165G>A | |
| ENST00000367429.9:c.3310+4G>A MANE Select | ENSP00000356399.4:n.3310+4G>A | |
| ENST00000367429.8:c.3310+4G>A | ENSP00000356399.4:n.3310+4G>A | |
| ENST00000466229.5:n.6408+4G>A | ||
| NM_000186.3:c.3310+4G>A , LRG_47t1:c.3310+4G>A | NP_000177.2:n.3310+4G>A | |
| XR_001737134.2:n.3496+4G>A | ||
| NM_000186.4:c.3310+4G>A MANE Select | NP_000177.2:n.3310+4G>A |