Linked Data
ClinVar Variation Id:
768943
dbSNP Id:
rs114642426
ExAC:
18:73000176 C / T
gnomAD v2:
18-73000176-C-T
gnomAD v3:
18-75288221-C-T
gnomAD v4:
18-75288221-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.75288221C>T , CM000680.2:g.75288221C>T | GRCh38 |
| NC_000018.9:g.73000176C>T , CM000680.1:g.73000176C>T | GRCh37 |
| NC_000018.8:g.71129164C>T | NCBI36 |
| NG_032047.1:g.82467C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580243.3:c.2814C>T MANE Select | ENSP00000464391.1:p.Thr938= | |
| ENST00000322038.5:c.2679C>T | ENSP00000323584.5:p.Thr893= | |
| ENST00000580243.1:c.2814C>T | ENSP00000464391.1:p.Thr938= | |
| ENST00000584217.1:n.5358C>T | ||
| NM_001308210.1:c.2814C>T | NP_001295139.1:p.Thr938= | |
| NM_005786.5:c.2679C>T | NP_005777.3:p.Thr893= | |
| XM_005266641.2:c.2679C>T | XP_005266698.1:p.Thr893= | |
| XM_005266641.3:c.2679C>T | XP_005266698.1:p.Thr893= | |
| NM_001308210.2:c.2814C>T MANE Select | NP_001295139.1:p.Thr938= | |
| NM_005786.6:c.2679C>T | NP_005777.3:p.Thr893= |