Linked Data
ClinVar Variation Id:
2416861
ClinVar RCV Id:
RCV003109112
dbSNP Id:
rs201688022
ExAC:
3:131190063 C / T
gnomAD v2:
3-131190063-C-T
gnomAD v3:
3-131471219-C-T
gnomAD v4:
3-131471219-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.131471219C>T , CM000665.2:g.131471219C>T | GRCh38 |
| NC_000003.11:g.131190063C>T , CM000665.1:g.131190063C>T | GRCh37 |
| NC_000003.10:g.132672753C>T | NCBI36 |
| NG_029207.1:g.36798G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264995.8:c.690G>A MANE Select | ENSP00000264995.2:p.Thr230= | |
| ENST00000264995.7:c.690G>A | ENSP00000264995.2:p.Thr230= | |
| ENST00000425847.6:c.771G>A | ENSP00000398536.2:p.Thr257= | |
| ENST00000507669.5:c.375G>A | ENSP00000422419.1:p.Thr125= | |
| ENST00000510043.1:n.116G>A | ||
| ENST00000511168.5:c.733G>A | ||
| NM_007208.3:c.690G>A | NP_009139.1:p.Thr230= | |
| NM_007208.4:c.690G>A MANE Select | NP_009139.1:p.Thr230= |