Linked Data
dbSNP Id:
rs12075550
gnomAD v2:
1-46834212-T-C
gnomAD v3:
1-46368540-T-C
gnomAD v4:
1-46368540-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46368540T>C , CM000663.2:g.46368540T>C | GRCh38 |
| NC_000001.10:g.46834212T>C , CM000663.1:g.46834212T>C | GRCh37 |
| NC_000001.9:g.46606799T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001387266.1:c.*671T>C | NP_001374195.1:n.*671T>C | |
| NM_001387268.1:c.1006-232T>C | NP_001374197.1:n.1006-232T>C | |
| NM_001387269.1:c.*152T>C | NP_001374198.1:n.*152T>C | |
| NM_001387270.1:c.878+7712T>C | NP_001374199.1:n.878+7712T>C |