Linked Data
dbSNP Id:
rs1263969213
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173484T>G , CM000678.2:g.173484T>G | GRCh38 |
| NC_000016.9:g.223483T>G , CM000678.1:g.223483T>G | GRCh37 |
| NC_000016.8:g.163483T>G | NCBI36 |
| NG_000006.1:g.34347T>G | |
| NG_059186.1:g.1834T>G | |
| NG_059271.1:g.5638T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.313T>G MANE Select | ENSP00000251595.6:p.Cys105Gly | |
| ENST00000251595.10:c.313T>G | ENSP00000251595.6:p.Cys105Gly | |
| ENST00000397806.1:c.217T>G | ENSP00000380908.1:p.Cys73Gly | |
| ENST00000482565.1:n.449T>G | ||
| NM_000517.4:c.313T>G | NP_000508.1:p.Cys105Gly | |
| NM_000517.6:c.313T>G MANE Select | NP_000508.1:p.Cys105Gly |