Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536539G>C , CM000679.2:g.42536539G>C | GRCh38 |
| NC_000017.10:g.40688557G>C , CM000679.1:g.40688557G>C | GRCh37 |
| NC_000017.9:g.37942083G>C | NCBI36 |
| NG_011552.1:g.5607G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.267G>C MANE Select | ENSP00000225927.1:p.Leu89= | |
| ENST00000225927.6:c.267G>C | ENSP00000225927.1:p.Leu89= | |
| ENST00000586516.5:c.17G>C | ||
| ENST00000591587.1:c.10G>C | ENSP00000467836.1:p.Ala4Pro | |
| NM_000263.3:c.267G>C | NP_000254.2:p.Leu89= | |
| XM_024450771.1:c.267G>C | XP_024306539.1:p.Leu89= | |
| NM_000263.4:c.267G>C MANE Select | NP_000254.2:p.Leu89= |