Linked Data
dbSNP Id:
rs2147004233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304483A>C , CM000685.2:g.30304483A>C | GRCh38 |
| NC_000023.10:g.30322600A>C , CM000685.1:g.30322600A>C | GRCh37 |
| NC_000023.9:g.30232521A>C | NCBI36 |
| NG_009814.1:g.9896T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.*96T>G MANE Select | ENSP00000368253.4:n.*96T>G | |
| ENST00000378970.4:c.*96T>G | ENSP00000368253.4:n.*96T>G | |
| NM_000475.4:c.*96T>G | NP_000466.2:n.*96T>G | |
| NM_000475.5:c.*96T>G MANE Select | NP_000466.2:n.*96T>G |