Linked Data
dbSNP Id:
rs2142018513
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173604G>C , CM000678.2:g.173604G>C | GRCh38 |
| NC_000016.9:g.223603G>C , CM000678.1:g.223603G>C | GRCh37 |
| NC_000016.8:g.163603G>C | NCBI36 |
| NG_000006.1:g.34467G>C | |
| NG_059186.1:g.1954G>C | |
| NG_059271.1:g.5758G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.*4G>C MANE Select | ENSP00000251595.6:n.*4G>C | |
| ENST00000251595.10:c.*4G>C | ENSP00000251595.6:n.*4G>C | |
| ENST00000397806.1:c.*4G>C | ENSP00000380908.1:n.*4G>C | |
| ENST00000482565.1:n.569G>C | ||
| NM_000517.4:c.*4G>C | NP_000508.1:n.*4G>C | |
| NM_000517.6:c.*4G>C MANE Select | NP_000508.1:n.*4G>C |