Linked Data
dbSNP Id:
rs761562089
ExAC:
3:129251130 C / T
gnomAD v2:
3-129251130-C-T
gnomAD v4:
3-129532287-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532287C>T , CM000665.2:g.129532287C>T | GRCh38 |
| NC_000003.11:g.129251130C>T , CM000665.1:g.129251130C>T | GRCh37 |
| NC_000003.10:g.130733820C>T | NCBI36 |
| NG_009115.1:g.8649C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.567C>T MANE Select | ENSP00000296271.3:p.Ile189= | |
| ENST00000296271.3:c.567C>T | ENSP00000296271.3:p.Ile189= | |
| NM_000539.3:c.567C>T MANE Select | NP_000530.1:p.Ile189= |