Linked Data
dbSNP Id:
rs1033727089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800209A>C , CM000666.2:g.24800209A>C | GRCh38 |
| NC_000004.11:g.24801831A>C , CM000666.1:g.24801831A>C | GRCh37 |
| NC_000004.10:g.24410929A>C | NCBI36 |
| NG_012213.1:g.9747A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.688A>C MANE Select | ENSP00000371554.3:p.Lys230Gln | |
| ENST00000382120.3:c.688A>C | ENSP00000371554.3:p.Lys230Gln | |
| NM_003102.2:c.688A>C | NP_003093.2:p.Lys230Gln | |
| XR_427488.1:n.878A>C | ||
| NM_003102.3:c.688A>C | NP_003093.2:p.Lys230Gln | |
| NM_003102.4:c.688A>C MANE Select | NP_003093.2:p.Lys230Gln |