Linked Data
ClinVar Variation Id:
1755720
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022690T>G , CM000663.2:g.17022690T>G | GRCh38 |
| NC_000001.10:g.17349185T>G , CM000663.1:g.17349185T>G | GRCh37 |
| NC_000001.9:g.17221772T>G | NCBI36 |
| NG_012340.1:g.36481A>C , LRG_316:g.36481A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.512A>C | ENSP00000481376.2:p.Glu171Ala | |
| ENST00000491274.6:c.641A>C | ENSP00000480482.2:p.Glu214Ala | |
| ENST00000375499.8:c.683A>C MANE Select | ENSP00000364649.3:p.Glu228Ala | |
| ENST00000375499.7:c.683A>C | ENSP00000364649.3:p.Glu228Ala | |
| ENST00000475049.5:n.108A>C | ||
| ENST00000485092.5:n.347A>C | ||
| ENST00000485515.5:n.617A>C | ||
| NM_003000.2:c.683A>C , LRG_316t1:c.683A>C | NP_002991.2:p.Glu228Ala | |
| NM_003000.3:c.683A>C MANE Select | NP_002991.2:p.Glu228Ala |