Linked Data
dbSNP Id:
rs1351316742
gnomAD v2:
3-129249851-T-C
gnomAD v3:
3-129531008-T-C
gnomAD v4:
3-129531008-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129531008T>C , CM000665.2:g.129531008T>C | GRCh38 |
| NC_000003.11:g.129249851T>C , CM000665.1:g.129249851T>C | GRCh37 |
| NC_000003.10:g.130732541T>C | NCBI36 |
| NG_009115.1:g.7370T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.494T>C MANE Select | ENSP00000296271.3:p.Leu165Pro | |
| ENST00000296271.3:c.494T>C | ENSP00000296271.3:p.Leu165Pro | |
| NM_000539.3:c.494T>C MANE Select | NP_000530.1:p.Leu165Pro |