Linked Data
dbSNP Id:
rs1413759402
gnomAD v2:
11-71900894-C-G
gnomAD v3:
11-72189850-C-G
gnomAD v4:
11-72189850-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72189850C>G , CM000673.2:g.72189850C>G | GRCh38 |
| NC_000011.9:g.71900894C>G , CM000673.1:g.71900894C>G | GRCh37 |
| NC_000011.8:g.71578542C>G | NCBI36 |
| NG_015863.1:g.5293C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000312293.9:c.-9+91C>G | ENSP00000308137.4:n.-9+91C>G | |
| ENST00000312293.8:c.-9+91C>G | ENSP00000308137.4:n.-9+91C>G | |
| ENST00000393681.6:c.-75+91C>G | ENSP00000377286.2:n.-75+91C>G | |
| NM_016724.2:c.-75+91C>G | NP_057936.1:n.-75+91C>G | |
| NM_016725.2:c.-9+91C>G | NP_057937.1:n.-9+91C>G | |
| NM_016724.3:c.-75+91C>G | NP_057936.1:n.-75+91C>G | |
| NM_016725.3:c.-9+91C>G | NP_057937.1:n.-9+91C>G |