Linked Data
dbSNP Id:
rs1055340810
gnomAD v2:
14-100497904-C-G
gnomAD v3:
14-100031567-C-G
gnomAD v4:
14-100031567-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100031567C>G , CM000676.2:g.100031567C>G | GRCh38 |
| NC_000014.8:g.100497904C>G , CM000676.1:g.100497904C>G | GRCh37 |
| NC_000014.7:g.99567657C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402714.6:c.6-53120C>G | ENSP00000384720.2:n.6-53120C>G | |
| ENST00000544450.6:c.23+11880C>G | ENSP00000437904.2:n.23+11880C>G | |
| ENST00000554460.5:n.112+11880C>G | ||
| XM_005267749.2:c.23+11880C>G | XP_005267806.1:n.23+11880C>G | |
| XM_011536827.1:c.23+11880C>G | XP_011535129.1:n.23+11880C>G | |
| XM_011536828.1:c.23+11880C>G | XP_011535130.1:n.23+11880C>G | |
| NM_001330221.1:c.6-53120C>G | NP_001317150.1:n.6-53120C>G | |
| XM_005267749.3:c.23+11880C>G | XP_005267806.1:n.23+11880C>G | |
| XM_011536828.2:c.23+11880C>G | XP_011535130.1:n.23+11880C>G | |
| XM_017021363.2:c.23+11880C>G | XP_016876852.1:n.23+11880C>G | |
| XR_001750355.1:n.717+11880C>G | ||
| XR_001750356.1:n.717+11880C>G | ||
| XR_001750357.2:n.717+11880C>G | ||
| XR_001750360.1:n.605-53120C>G | ||
| XR_001750362.1:n.717+11880C>G | ||
| XR_001750363.1:n.717+11880C>G | ||
| XR_001750364.1:n.717+11880C>G | ||
| XR_001750366.1:n.717+11880C>G | ||
| NM_001330221.2:c.6-53120C>G | NP_001317150.1:n.6-53120C>G |