Linked Data
dbSNP Id:
rs761605625
ExAC:
12:58159968 C / T
gnomAD v2:
12-58159968-C-T
gnomAD v3:
12-57766185-C-T
gnomAD v4:
12-57766185-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766185C>T , CM000674.2:g.57766185C>T | GRCh38 |
| NC_000012.11:g.58159968C>T , CM000674.1:g.58159968C>T | GRCh37 |
| NC_000012.10:g.56446235C>T | NCBI36 |
| NG_007076.1:g.6009G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.120G>A | ||
| ENST00000713544.1:c.208G>A | ENSP00000518840.1:p.Ala70Thr | |
| ENST00000713545.1:c.208G>A | ENSP00000518841.1:p.Ala70Thr | |
| ENST00000228606.9:c.208G>A MANE Select | ENSP00000228606.4:p.Ala70Thr | |
| ENST00000228606.8:c.208G>A | ENSP00000228606.4:p.Ala70Thr | |
| ENST00000546496.1:n.36G>A | ||
| ENST00000546609.1:c.120G>A | ||
| ENST00000547344.5:n.262G>A | ||
| ENST00000552186.1:n.327G>A | ||
| NM_000785.3:c.208G>A | NP_000776.1:p.Ala70Thr | |
| NM_000785.4:c.208G>A MANE Select | NP_000776.1:p.Ala70Thr |