Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719695T>G , CM000678.2:g.88719695T>G | GRCh38 |
| NC_000016.9:g.88786103T>G , CM000678.1:g.88786103T>G | GRCh37 |
| NC_000016.8:g.87313604T>G | NCBI36 |
| NG_042229.1:g.70526A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6350A>C MANE Select | ENSP00000301015.9:p.Glu2117Ala | |
| ENST00000466823.3:c.376A>C | ||
| ENST00000301015.13:c.6350A>C | ENSP00000301015.9:p.Glu2117Ala | |
| ENST00000419505.5:c.116A>C | ENSP00000406358.1:p.Glu39Ala | |
| ENST00000466823.2:c.376A>C | ||
| ENST00000495568.7:n.591A>C | ||
| ENST00000497793.2:n.505A>C | ||
| NM_001142864.2:c.6350A>C | NP_001136336.2:p.Glu2117Ala | |
| NM_001142864.3:c.6350A>C | NP_001136336.2:p.Glu2117Ala | |
| NM_001142864.4:c.6350A>C MANE Select | NP_001136336.2:p.Glu2117Ala |