Linked Data
dbSNP Id:
rs9623117
gnomAD v2:
22-40452119-T-C
gnomAD v3:
22-40056115-T-C
gnomAD v4:
22-40056115-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40056115T>C , CM000684.2:g.40056115T>C | GRCh38 |
| NC_000022.10:g.40452119T>C , CM000684.1:g.40452119T>C | GRCh37 |
| NC_000022.9:g.38782065T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301923.13:c.-121+11117T>C | ENSP00000306759.9:n.-121+11117T>C | |
| ENST00000402203.5:c.-121+10527T>C | ENSP00000384795.1:n.-121+10527T>C | |
| ENST00000441751.5:c.-121+11117T>C | ENSP00000397491.1:n.-121+11117T>C | |
| NM_001024843.1:c.-121+11117T>C | NP_001020014.1:n.-121+11117T>C | |
| NM_001024843.2:c.-121+11117T>C | NP_001020014.1:n.-121+11117T>C |