Linked Data
dbSNP Id:
rs63751178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172916G>C , CM000678.2:g.172916G>C | GRCh38 |
| NC_000016.9:g.222915G>C , CM000678.1:g.222915G>C | GRCh37 |
| NC_000016.8:g.162915G>C | NCBI36 |
| NG_000006.1:g.33779G>C | |
| NG_059186.1:g.1266G>C | |
| NG_059271.1:g.5070G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.4G>C MANE Select | ENSP00000251595.6:p.Val2Leu | |
| ENST00000251595.10:c.4G>C | ENSP00000251595.6:p.Val2Leu | |
| ENST00000397806.1:c.-44G>C | ENSP00000380908.1:n.-44G>C | |
| ENST00000482565.1:n.23G>C | ||
| NM_000517.4:c.4G>C | NP_000508.1:p.Val2Leu | |
| NM_000517.6:c.4G>C MANE Select | NP_000508.1:p.Val2Leu |