Linked Data
dbSNP Id:
rs767646428
gnomAD v2:
3-129247971-C-G
gnomAD v3:
3-129529128-C-G
gnomAD v4:
3-129529128-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129529128C>G , CM000665.2:g.129529128C>G | GRCh38 |
| NC_000003.11:g.129247971C>G , CM000665.1:g.129247971C>G | GRCh37 |
| NC_000003.10:g.130730661C>G | NCBI36 |
| NG_009115.1:g.5490C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.361+34C>G MANE Select | ENSP00000296271.3:n.361+34C>G | |
| ENST00000296271.3:c.361+34C>G | ENSP00000296271.3:n.361+34C>G | |
| NM_000539.3:c.361+34C>G MANE Select | NP_000530.1:n.361+34C>G |