Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173502G>C , CM000678.2:g.173502G>C | GRCh38 |
| NC_000016.9:g.223501G>C , CM000678.1:g.223501G>C | GRCh37 |
| NC_000016.8:g.163501G>C | NCBI36 |
| NG_000006.1:g.34365G>C | |
| NG_059186.1:g.1852G>C | |
| NG_059271.1:g.5656G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.331G>C MANE Select | ENSP00000251595.6:p.Ala111Pro | |
| ENST00000251595.10:c.331G>C | ENSP00000251595.6:p.Ala111Pro | |
| ENST00000397806.1:c.235G>C | ENSP00000380908.1:p.Ala79Pro | |
| ENST00000482565.1:n.467G>C | ||
| NM_000517.4:c.331G>C | NP_000508.1:p.Ala111Pro | |
| NM_000517.6:c.331G>C MANE Select | NP_000508.1:p.Ala111Pro |