Linked Data
dbSNP Id:
rs1435785495
gnomAD v2:
6-80816358-C-T
gnomAD v3:
6-80106641-C-T
gnomAD v4:
6-80106641-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80106641C>T , CM000668.2:g.80106641C>T | GRCh38 |
| NC_000006.11:g.80816358C>T , CM000668.1:g.80816358C>T | GRCh37 |
| NC_000006.10:g.80873077C>T | NCBI36 |
| NG_009775.1:g.5015C>T | |
| NG_009775.2:g.5015C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000056.3:c.-53C>T | NP_000047.1:n.-53C>T | |
| NM_183050.2:c.-53C>T | NP_898871.1:n.-53C>T | |
| NM_000056.4:c.-53C>T | NP_000047.1:n.-53C>T | |
| NM_001318975.1:c.-57C>T | NP_001305904.1:n.-57C>T | |
| NM_183050.3:c.-53C>T | NP_898871.1:n.-53C>T | |
| NR_134945.1:n.32C>T |