Linked Data
dbSNP Id:
rs10751667
gnomAD v2:
11-941941-A-T
gnomAD v3:
11-941941-A-T
gnomAD v4:
11-941941-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.941941A>T , CM000673.2:g.941941A>T | GRCh38 |
| NC_000011.9:g.941941A>T , CM000673.1:g.941941A>T | GRCh37 |
| NC_000011.8:g.931941A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527024.2:c.49+1047A>T | ENSP00000434563.2:n.49+1047A>T | |
| ENST00000528195.6:c.67+15853A>T | ENSP00000510810.1:n.67+15853A>T | |
| ENST00000529818.6:c.-162+17004A>T | ENSP00000509792.1:n.-162+17004A>T | |
| ENST00000529858.6:n.209+15853A>T | ||
| ENST00000531548.6:c.-162+9164A>T | ENSP00000433498.2:n.-162+9164A>T | |
| ENST00000534328.6:c.-358-14845A>T | ENSP00000436059.2:n.-358-14845A>T | |
| ENST00000534485.6:c.-162+8344A>T | ENSP00000435756.2:n.-162+8344A>T | |
| ENST00000687792.1:c.67+15853A>T | ENSP00000508951.1:n.67+15853A>T | |
| ENST00000687890.1:c.67+15853A>T | ENSP00000510756.1:n.67+15853A>T | |
| ENST00000693238.1:c.67+15853A>T | ENSP00000510648.1:n.67+15853A>T | |
| ENST00000448903.7:c.67+15853A>T MANE Select | ENSP00000413234.3:n.67+15853A>T | |
| ENST00000332231.9:c.67+15853A>T | ENSP00000327694.5:n.67+15853A>T | |
| ENST00000448903.6:c.67+15853A>T | ENSP00000413234.2:n.67+15853A>T | |
| ENST00000525796.5:c.-46+15941A>T | ENSP00000437228.1:n.-46+15941A>T | |
| ENST00000527024.1:c.49+1047A>T | ENSP00000434563.1:n.49+1047A>T | |
| ENST00000528195.5:n.144+15853A>T | ||
| ENST00000528815.5:c.67+15853A>T | ENSP00000431630.1:n.67+15853A>T | |
| ENST00000529818.5:n.44+17004A>T | ||
| ENST00000529858.5:n.220-14845A>T | ||
| ENST00000531548.5:c.85+9164A>T | ENSP00000433498.1:n.85+9164A>T | |
| ENST00000534328.5:c.67+15853A>T | ENSP00000436059.1:n.67+15853A>T | |
| ENST00000534485.5:c.37+8344A>T | ENSP00000435756.1:n.37+8344A>T | |
| NM_001242837.1:c.67+15853A>T | NP_001229766.1:n.67+15853A>T | |
| NM_012305.3:c.67+15853A>T | NP_036437.1:n.67+15853A>T | |
| XM_011519929.1:c.-162+8344A>T | XP_011518231.1:n.-162+8344A>T | |
| XM_011519930.1:c.67+15853A>T | XP_011518232.1:n.67+15853A>T | |
| XR_930847.1:n.241+15853A>T | ||
| NR_144509.1:n.280+15853A>T | ||
| NR_144510.1:n.280+15853A>T | ||
| XM_011519930.3:c.67+15853A>T | XP_011518232.1:n.67+15853A>T | |
| NM_012305.4:c.67+15853A>T MANE Select | NP_036437.1:n.67+15853A>T | |
| NR_144509.2:n.219+15853A>T | ||
| NR_144510.2:n.219+15853A>T | ||
| NM_001242837.2:c.67+15853A>T | NP_001229766.1:n.67+15853A>T |