Linked Data
dbSNP Id:
rs996347750
gnomAD v2:
11-122929606-A-C
gnomAD v3:
11-123058898-A-C
gnomAD v4:
11-123058898-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123058898A>C , CM000673.2:g.123058898A>C | GRCh38 |
| NC_000011.9:g.122929606A>C , CM000673.1:g.122929606A>C | GRCh37 |
| NC_000011.8:g.122434816A>C | NCBI36 |
| NG_029473.1:g.8239T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534624.6:c.1324-68T>G MANE Select | ENSP00000432083.1:n.1324-68T>G | |
| ENST00000227378.7:c.1324-68T>G | ENSP00000227378.3:n.1324-68T>G | |
| ENST00000453788.6:c.1324-68T>G | ENSP00000404372.2:n.1324-68T>G | |
| ENST00000524552.5:c.97-68T>G | ENSP00000435908.1:n.97-68T>G | |
| ENST00000526110.5:c.1267-68T>G | ENSP00000433584.1:n.1267-68T>G | |
| ENST00000526686.1:c.-89T>G | ENSP00000435019.1:n.-89T>G | |
| ENST00000532091.1:n.1231T>G | ||
| ENST00000532636.5:c.1324-68T>G | ENSP00000437125.1:n.1324-68T>G | |
| ENST00000533238.5:n.426-68T>G | ||
| ENST00000533540.5:c.886-68T>G | ENSP00000437189.1:n.886-68T>G | |
| ENST00000534319.5:c.616-68T>G | ENSP00000433316.1:n.616-68T>G | |
| ENST00000534624.5:c.1324-68T>G | ENSP00000432083.1:n.1324-68T>G | |
| NM_006597.5:c.1324-68T>G | NP_006588.1:n.1324-68T>G | |
| NM_153201.3:c.1324-68T>G | NP_694881.1:n.1324-68T>G | |
| XM_011542798.1:c.1324-68T>G | XP_011541100.1:n.1324-68T>G | |
| NM_006597.6:c.1324-68T>G MANE Select | NP_006588.1:n.1324-68T>G | |
| NM_153201.4:c.1324-68T>G | NP_694881.1:n.1324-68T>G |