Linked Data
dbSNP Id:
rs3102735
gnomAD v2:
8-119965070-T-C
gnomAD v3:
8-118952831-T-C
gnomAD v4:
8-118952831-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118952831T>C , CM000670.2:g.118952831T>C | GRCh38 |
| NC_000008.10:g.119965070T>C , CM000670.1:g.119965070T>C | GRCh37 |
| NC_000008.9:g.120034251T>C | NCBI36 |
| NG_012202.1:g.4314A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_005250756.2:c.-60+453T>C | XP_005250813.1:n.-60+453T>C | |
| NM_001324095.1:c.-324+453T>C | NP_001311024.1:n.-324+453T>C | |
| XM_005250756.3:c.-60+453T>C | XP_005250813.1:n.-60+453T>C | |
| NM_001324095.2:c.-324+453T>C | NP_001311024.1:n.-324+453T>C |