Linked Data
dbSNP Id:
rs1276780553
gnomAD v2:
12-63545688-C-A
gnomAD v3:
12-63151908-C-A
gnomAD v4:
12-63151908-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63151908C>A , CM000674.2:g.63151908C>A | GRCh38 |
| NC_000012.11:g.63545688C>A , CM000674.1:g.63545688C>A | GRCh37 |
| NC_000012.10:g.61831955C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000706.4:c.-1072G>T | NP_000697.1:n.-1072G>T | |
| XM_005269002.3:c.-1063G>T | XP_005269059.1:n.-1063G>T |