Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67939955C>G , CM000678.2:g.67939955C>G | GRCh38 |
| NC_000016.9:g.67973858C>G , CM000678.1:g.67973858C>G | GRCh37 |
| NC_000016.8:g.66531359C>G | NCBI36 |
| NG_009778.1:g.9158G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1272G>C MANE Select | ENSP00000264005.5:p.Gln424His | |
| ENST00000264005.9:c.1272G>C | ENSP00000264005.5:p.Gln424His | |
| ENST00000570369.5:c.275G>C | ||
| ENST00000573538.5:c.1010G>C | ENSP00000463220.1:n.1010G>C | |
| NM_000229.1:c.1272G>C | NP_000220.1:p.Gln424His | |
| NM_000229.2:c.1272G>C MANE Select | NP_000220.1:p.Gln424His |