Linked Data
dbSNP Id:
rs1299936983
gnomAD v2:
1-196713049-G-T
gnomAD v3:
1-196743919-G-T
gnomAD v4:
1-196743919-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196743919G>T , CM000663.2:g.196743919G>T | GRCh38 |
| NC_000001.10:g.196713049G>T , CM000663.1:g.196713049G>T | GRCh37 |
| NC_000001.9:g.194979672G>T | NCBI36 |
| NG_007259.1:g.96909G>T , LRG_47:g.96909G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4338+291G>T | ||
| ENST00000695970.1:c.3136+291G>T | ENSP00000512297.1:n.3136+291G>T | |
| ENST00000695971.1:c.3289+291G>T | ENSP00000512298.1:n.3289+291G>T | |
| ENST00000695972.1:c.*387+291G>T | ENSP00000512299.1:n.*387+291G>T | |
| ENST00000695973.1:c.*1674+291G>T | ENSP00000512300.1:n.*1674+291G>T | |
| ENST00000695974.1:c.3133+291G>T | ENSP00000512301.1:n.3133+291G>T | |
| ENST00000695975.1:c.*1437+291G>T | ENSP00000512302.1:n.*1437+291G>T | |
| ENST00000695976.1:c.3121+291G>T | ENSP00000512303.1:n.3121+291G>T | |
| ENST00000695981.1:c.3310+291G>T | ENSP00000512306.1:n.3310+291G>T | |
| ENST00000695984.1:c.1318+291G>T | ENSP00000512309.1:n.1318+291G>T | |
| ENST00000695986.1:c.*2961+291G>T | ENSP00000512311.1:n.*2961+291G>T | |
| ENST00000696026.1:c.*1592+291G>T | ENSP00000512335.1:n.*1592+291G>T | |
| ENST00000696027.1:c.3304+291G>T | ENSP00000512336.1:n.3304+291G>T | |
| ENST00000696028.1:c.3238+291G>T | ENSP00000512337.1:n.3238+291G>T | |
| ENST00000696029.1:c.3304+291G>T | ENSP00000512338.1:n.3304+291G>T | |
| ENST00000696031.1:c.*2828+291G>T | ENSP00000512340.1:n.*2828+291G>T | |
| ENST00000696032.1:c.3310+291G>T | ENSP00000512341.1:n.3310+291G>T | |
| ENST00000696033.1:c.1160-35878G>T | ENSP00000512342.1:n.1160-35878G>T | |
| ENST00000367429.9:c.3310+291G>T MANE Select | ENSP00000356399.4:n.3310+291G>T | |
| ENST00000367429.8:c.3310+291G>T | ENSP00000356399.4:n.3310+291G>T | |
| ENST00000466229.5:n.6408+291G>T | ||
| NM_000186.3:c.3310+291G>T , LRG_47t1:c.3310+291G>T | NP_000177.2:n.3310+291G>T | |
| XR_001737134.2:n.3496+291G>T | ||
| NM_000186.4:c.3310+291G>T MANE Select | NP_000177.2:n.3310+291G>T |