Linked Data
dbSNP Id:
rs10808846
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81480931G>C , CM000670.2:g.81480931G>C | GRCh38 |
| NC_000008.10:g.82393166G>C , CM000670.1:g.82393166G>C | GRCh37 |
| NC_000008.9:g.82555721G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256104.5:c.74-333C>G MANE Select | ENSP00000256104.4:n.74-333C>G | |
| ENST00000256104.4:c.74-333C>G | ENSP00000256104.4:n.74-333C>G | |
| ENST00000518669.5:n.143-467C>G | ||
| ENST00000522659.1:c.70-333C>G | ENSP00000428385.1:n.70-333C>G | |
| NM_001442.2:c.74-333C>G | NP_001433.1:n.74-333C>G | |
| XR_001745980.1:n.514+18957G>C | ||
| NM_001442.3:c.74-333C>G MANE Select | NP_001433.1:n.74-333C>G |