Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2866850G>C , CM000686.2:g.2866850G>C | GRCh38 |
| NC_000024.9:g.2734891G>C , CM000686.1:g.2734891G>C | GRCh37 |
| NC_000024.8:g.2794891G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250784.13:c.748G>C MANE Select | ENSP00000250784.7:p.Glu250Gln | |
| ENST00000250784.12:c.748G>C | ENSP00000250784.7:p.Glu250Gln | |
| ENST00000430575.1:c.775G>C | ENSP00000415317.1:p.Glu259Gln | |
| ENST00000477725.1:n.892G>C | ||
| ENST00000515575.1:n.42+12079G>C | ||
| NM_001008.3:c.748G>C | NP_000999.1:p.Glu250Gln | |
| NM_001008.4:c.748G>C MANE Select | NP_000999.1:p.Glu250Gln |