Linked Data
dbSNP Id:
rs752496804
ExAC:
3:129249785 T / G
gnomAD v2:
3-129249785-T-G
gnomAD v4:
3-129530942-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530942T>G , CM000665.2:g.129530942T>G | GRCh38 |
| NC_000003.11:g.129249785T>G , CM000665.1:g.129249785T>G | GRCh37 |
| NC_000003.10:g.130732475T>G | NCBI36 |
| NG_009115.1:g.7304T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.428T>G MANE Select | ENSP00000296271.3:p.Met143Arg | |
| ENST00000296271.3:c.428T>G | ENSP00000296271.3:p.Met143Arg | |
| NM_000539.3:c.428T>G MANE Select | NP_000530.1:p.Met143Arg |