Linked Data
ClinVar Variation Id:
143082
dbSNP Id:
rs142285818
ExAC:
3:129251570 C / T
gnomAD v2:
3-129251570-C-T
gnomAD v3:
3-129532727-C-T
gnomAD v4:
3-129532727-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532727C>T , CM000665.2:g.129532727C>T | GRCh38 |
| NC_000003.11:g.129251570C>T , CM000665.1:g.129251570C>T | GRCh37 |
| NC_000003.10:g.130734260C>T | NCBI36 |
| NG_009115.1:g.9089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.891C>T MANE Select | ENSP00000296271.3:p.Ser297= | |
| ENST00000296271.3:c.891C>T | ENSP00000296271.3:p.Ser297= | |
| NM_000539.3:c.891C>T MANE Select | NP_000530.1:p.Ser297= |