Linked Data
gnomAD v4:
3-129532143-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532143T>C , CM000665.2:g.129532143T>C | GRCh38 |
| NC_000003.11:g.129250986T>C , CM000665.1:g.129250986T>C | GRCh37 |
| NC_000003.10:g.130733676T>C | NCBI36 |
| NG_009115.1:g.8505T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.531-108T>C MANE Select | ENSP00000296271.3:n.531-108T>C | |
| ENST00000296271.3:c.531-108T>C | ENSP00000296271.3:n.531-108T>C | |
| NM_000539.3:c.531-108T>C MANE Select | NP_000530.1:n.531-108T>C |