Linked Data
ClinVar Variation Id:
1377630
dbSNP Id:
rs886059530
gnomAD v3:
4-6301594-C-G
gnomAD v4:
4-6301594-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301594C>G , CM000666.2:g.6301594C>G | GRCh38 |
| NC_000004.11:g.6303321C>G , CM000666.1:g.6303321C>G | GRCh37 |
| NC_000004.10:g.6354222C>G | NCBI36 |
| NG_011700.1:g.36745C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1835C>G | ENSP00000507852.1:p.Thr612Ser | |
| ENST00000683395.1:c.1776C>G | ||
| ENST00000684087.1:c.1799C>G | ENSP00000506978.1:p.Thr600Ser | |
| ENST00000506362.2:c.1550C>G | ENSP00000424103.2:p.Thr517Ser | |
| ENST00000673642.1:c.1458C>G | ENSP00000501242.1:n.1458C>G | |
| ENST00000673991.1:c.1835C>G | ENSP00000501033.1:p.Thr612Ser | |
| ENST00000226760.5:c.1799C>G MANE Select | ENSP00000226760.1:p.Thr600Ser | |
| ENST00000503569.5:c.1799C>G | ENSP00000423337.1:p.Thr600Ser | |
| ENST00000507765.1:n.1984C>G | ||
| NM_001145853.1:c.1799C>G | NP_001139325.1:p.Thr600Ser | |
| NM_006005.3:c.1799C>G MANE Select | NP_005996.2:p.Thr600Ser | |
| XM_017008586.1:c.1808C>G | XP_016864075.1:p.Thr603Ser |