Linked Data
ClinVar Variation Id:
2361770
ClinVar RCV Id:
RCV002980558
dbSNP Id:
rs763147341
ExAC:
5:145719504 G / T
gnomAD v2:
5-145719504-G-T
gnomAD v3:
5-146339941-G-T
gnomAD v4:
5-146339941-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339941G>T , CM000667.2:g.146339941G>T | GRCh38 |
| NC_000005.9:g.145719504G>T , CM000667.1:g.145719504G>T | GRCh37 |
| NC_000005.8:g.145699697G>T | NCBI36 |
| NG_011885.1:g.5918G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646991.2:c.514G>T MANE Select | ENSP00000495718.1:p.Ala172Ser | |
| ENST00000230732.4:c.514G>T | ENSP00000230732.4:p.Ala172Ser | |
| NM_002700.2:c.514G>T | NP_002691.1:p.Ala172Ser | |
| NM_002700.3:c.514G>T MANE Select | NP_002691.1:p.Ala172Ser |