Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612348A>G , CM000679.2:g.41612348A>G | GRCh38 |
| NC_000017.10:g.39768600A>G , CM000679.1:g.39768600A>G | GRCh37 |
| NC_000017.9:g.37022126A>G | NCBI36 |
| NG_008301.1:g.5480T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.341T>C MANE Select | ENSP00000301653.3:p.Val114Ala | |
| ENST00000301653.8:c.341T>C | ENSP00000301653.3:p.Val114Ala | |
| ENST00000588319.1:n.418T>C | ||
| ENST00000593067.1:c.-312-62T>C | ENSP00000467124.1:n.-312-62T>C | |
| NM_005557.3:c.341T>C | NP_005548.2:p.Val114Ala | |
| NM_005557.4:c.341T>C MANE Select | NP_005548.2:p.Val114Ala |