Linked Data
dbSNP Id:
rs1386183017
gnomAD v2:
8-119972721-G-T
gnomAD v3:
8-118960482-G-T
gnomAD v4:
8-118960482-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118960482G>T , CM000670.2:g.118960482G>T | GRCh38 |
| NC_000008.10:g.119972721G>T , CM000670.1:g.119972721G>T | GRCh37 |
| NC_000008.9:g.120041902G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005250756.2:c.-60+8104G>T | XP_005250813.1:n.-60+8104G>T | |
| NM_001324095.1:c.-324+8104G>T | NP_001311024.1:n.-324+8104G>T | |
| XM_005250756.3:c.-60+8104G>T | XP_005250813.1:n.-60+8104G>T | |
| NM_001324095.2:c.-324+8104G>T | NP_001311024.1:n.-324+8104G>T |