Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541923G>C , CM000671.2:g.98541923G>C | GRCh38 |
| NC_000009.11:g.101304205G>C , CM000671.1:g.101304205G>C | GRCh37 |
| NC_000009.10:g.100344026G>C | NCBI36 |
| NG_016426.1:g.172275C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.580C>G MANE Select | ENSP00000259455.2:p.Gln194Glu | |
| ENST00000637410.1:n.358C>G | ||
| ENST00000637717.1:c.196C>G | ENSP00000490789.1:p.Gln66Glu | |
| ENST00000259455.3:c.580C>G | ENSP00000259455.2:p.Gln194Glu | |
| ENST00000477471.1:n.367C>G | ||
| ENST00000634227.1:n.354C>G | ||
| NM_005458.7:c.580C>G | NP_005449.5:p.Gln194Glu | |
| XM_017015331.2:c.286C>G | XP_016870820.1:p.Gln96Glu | |
| NM_005458.8:c.580C>G MANE Select | NP_005449.5:p.Gln194Glu |