Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218588G>C , CM000676.2:g.93218588G>C | GRCh38 |
| NC_000014.8:g.93684934G>C , CM000676.1:g.93684934G>C | GRCh37 |
| NC_000014.7:g.92754687G>C | NCBI36 |
| NG_051089.1:g.16533G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.663G>C MANE Select | ENSP00000013070.6:p.Gln221His | |
| ENST00000013070.10:c.663G>C | ENSP00000013070.6:p.Gln221His | |
| ENST00000416753.5:c.435G>C | ENSP00000391706.2:p.Gln145His | |
| ENST00000553674.1:c.*364G>C | ENSP00000450470.1:n.*364G>C | |
| ENST00000553857.5:c.378+3307G>C | ||
| ENST00000556871.5:c.372G>C | ENSP00000451022.1:p.Gln124His | |
| NM_175748.3:c.663G>C | NP_786924.2:p.Gln221His | |
| NR_038150.1:n.765G>C | ||
| NM_175748.4:c.663G>C MANE Select | NP_786924.2:p.Gln221His | |
| NR_038150.2:n.565G>C |