Linked Data
dbSNP Id:
rs996486595
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320919T>C , CM000666.2:g.119320919T>C | GRCh38 |
| NC_000004.11:g.120242074T>C , CM000666.1:g.120242074T>C | GRCh37 |
| NC_000004.10:g.120461522T>C | NCBI36 |
| NG_011444.1:g.6243A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.68-77A>G MANE Select | ENSP00000274024.3:n.68-77A>G | |
| ENST00000274024.3:c.68-77A>G | ENSP00000274024.3:n.68-77A>G | |
| NM_000134.3:c.68-77A>G | NP_000125.2:n.68-77A>G | |
| NM_000134.4:c.68-77A>G MANE Select | NP_000125.2:n.68-77A>G |