Linked Data
ClinVar Variation Id:
13468
dbSNP Id:
rs267607161
gnomAD v2:
18-29178543-G-T
gnomAD v3:
18-31598580-G-T
gnomAD v4:
18-31598580-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598580G>T , CM000680.2:g.31598580G>T | GRCh38 |
| NC_000018.9:g.29178543G>T , CM000680.1:g.29178543G>T | GRCh37 |
| NC_000018.8:g.27432541G>T | NCBI36 |
| NG_009490.1:g.11814G>T , LRG_416:g.11814G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237014.8:c.349G>T MANE Select | ENSP00000237014.4:p.Ala117Ser | |
| ENST00000610404.5:c.253G>T | ENSP00000477599.2:p.Ala85Ser | |
| ENST00000649620.1:c.349G>T | ENSP00000497927.1:p.Ala117Ser | |
| ENST00000237014.7:c.349G>T | ENSP00000237014.3:p.Ala117Ser | |
| ENST00000610404.4:c.463G>T | ENSP00000477599.1:p.Ala155Ser | |
| ENST00000613781.1:c.349G>T | ENSP00000479174.1:p.Ala117Ser | |
| NM_000371.3:c.349G>T , LRG_416t1:c.349G>T | NP_000362.1:p.Ala117Ser | |
| NM_000371.4:c.349G>T MANE Select | NP_000362.1:p.Ala117Ser |