Linked Data
dbSNP Id:
rs1163523289
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787880T>C , CM000681.2:g.18787880T>C | GRCh38 |
| NC_000019.9:g.18898689T>C , CM000681.1:g.18898689T>C | GRCh37 |
| NC_000019.8:g.18759689T>C | NCBI36 |
| NG_007070.1:g.8426A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.976-230A>G MANE Select | ENSP00000222271.2:n.976-230A>G | |
| ENST00000222271.6:c.976-230A>G | ENSP00000222271.2:n.976-230A>G | |
| ENST00000425807.1:c.817-230A>G | ENSP00000403792.1:n.817-230A>G | |
| ENST00000542601.6:c.877-230A>G | ENSP00000439156.2:n.877-230A>G | |
| NM_000095.2:c.976-230A>G | NP_000086.2:n.976-230A>G | |
| NM_000095.3:c.976-230A>G MANE Select | NP_000086.2:n.976-230A>G |