Linked Data
ClinVar Variation Id:
2193091
ClinVar RCV Id:
RCV002607810
dbSNP Id:
rs200920274
ExAC:
1:45973086 C / T
gnomAD v2:
1-45973086-C-T
gnomAD v3:
1-45507414-C-T
gnomAD v4:
1-45507414-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45507414C>T , CM000663.2:g.45507414C>T | GRCh38 |
| NC_000001.10:g.45973086C>T , CM000663.1:g.45973086C>T | GRCh37 |
| NC_000001.9:g.45745673C>T | NCBI36 |
| NG_013378.1:g.12231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.140C>T MANE Select | ENSP00000383840.4:p.Thr47Ile | |
| ENST00000401061.8:c.140C>T | ENSP00000383840.4:p.Thr47Ile | |
| ENST00000616135.1:c.-32C>T | ENSP00000478859.1:n.-32C>T | |
| NM_015506.2:c.140C>T | NP_056321.2:p.Thr47Ile | |
| XM_005270724.3:c.82-798C>T | XP_005270781.1:n.82-798C>T | |
| XM_011541204.1:c.-32C>T | XP_011539506.1:n.-32C>T | |
| NM_001330540.1:c.-32C>T | NP_001317469.1:n.-32C>T | |
| XM_005270724.5:c.82-798C>T | XP_005270781.1:n.82-798C>T | |
| NM_015506.3:c.140C>T MANE Select | NP_056321.2:p.Thr47Ile | |
| NM_001330540.2:c.-32C>T | NP_001317469.1:n.-32C>T |