Linked Data
ClinVar Variation Id:
704125
ClinVar RCV Id:
RCV000874057
dbSNP Id:
rs755437627
ExAC:
3:131181660 T / C
gnomAD v3:
3-131462816-T-C
gnomAD v4:
3-131462816-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.131462816T>C , CM000665.2:g.131462816T>C | GRCh38 |
| NC_000003.11:g.131181660T>C , CM000665.1:g.131181660T>C | GRCh37 |
| NC_000003.10:g.132664350T>C | NCBI36 |
| NG_029207.1:g.45201A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264995.8:c.954A>G MANE Select | ENSP00000264995.2:p.Thr318= | |
| ENST00000264995.7:c.954A>G | ENSP00000264995.2:p.Thr318= | |
| ENST00000425847.6:c.1035A>G | ENSP00000398536.2:p.Thr345= | |
| ENST00000510043.1:n.378A>G | ||
| ENST00000511168.5:c.997A>G | ||
| NM_007208.3:c.954A>G | NP_009139.1:p.Thr318= | |
| NM_007208.4:c.954A>G MANE Select | NP_009139.1:p.Thr318= |