Linked Data
ClinVar Variation Id:
1945304
ClinVar RCV Id:
RCV002667118
dbSNP Id:
rs148985828
ExAC:
5:145719503 C / T
gnomAD v2:
5-145719503-C-T
gnomAD v3:
5-146339940-C-T
gnomAD v4:
5-146339940-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339940C>T , CM000667.2:g.146339940C>T | GRCh38 |
| NC_000005.9:g.145719503C>T , CM000667.1:g.145719503C>T | GRCh37 |
| NC_000005.8:g.145699696C>T | NCBI36 |
| NG_011885.1:g.5917C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646991.2:c.513C>T MANE Select | ENSP00000495718.1:p.Ser171= | |
| ENST00000230732.4:c.513C>T | ENSP00000230732.4:p.Ser171= | |
| NM_002700.2:c.513C>T | NP_002691.1:p.Ser171= | |
| NM_002700.3:c.513C>T MANE Select | NP_002691.1:p.Ser171= |