Linked Data
ClinVar Variation Id:
4520
dbSNP Id:
rs28937893
ExAC:
4:6303668 G / A
gnomAD v2:
4-6303668-G-A
gnomAD v4:
4-6301941-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301941G>A , CM000666.2:g.6301941G>A | GRCh38 |
| NC_000004.11:g.6303668G>A , CM000666.1:g.6303668G>A | GRCh37 |
| NC_000004.10:g.6354569G>A | NCBI36 |
| NG_011700.1:g.37092G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2182G>A | ENSP00000507852.1:p.Ala728Thr | |
| ENST00000683395.1:c.2123G>A | ||
| ENST00000684087.1:c.2146G>A | ENSP00000506978.1:p.Ala716Thr | |
| ENST00000506362.2:c.1897G>A | ENSP00000424103.2:p.Ala633Thr | |
| ENST00000673642.1:c.1805G>A | ENSP00000501242.1:n.1805G>A | |
| ENST00000673991.1:c.2182G>A | ENSP00000501033.1:p.Ala728Thr | |
| ENST00000226760.5:c.2146G>A MANE Select | ENSP00000226760.1:p.Ala716Thr | |
| ENST00000503569.5:c.2146G>A | ENSP00000423337.1:p.Ala716Thr | |
| ENST00000507765.1:n.2331G>A | ||
| NM_001145853.1:c.2146G>A | NP_001139325.1:p.Ala716Thr | |
| NM_006005.3:c.2146G>A MANE Select | NP_005996.2:p.Ala716Thr | |
| XM_017008586.1:c.2155G>A | XP_016864075.1:p.Ala719Thr |