Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23802498T>G , CM000663.2:g.23802498T>G | GRCh38 |
| NC_000001.10:g.24128988T>G , CM000663.1:g.24128988T>G | GRCh37 |
| NC_000001.9:g.24001575T>G | NCBI36 |
| NG_007068.1:g.3307A>C | |
| NG_013061.1:g.27962A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.943A>C MANE Select | ENSP00000363614.3:p.Ser315Arg | |
| ENST00000235958.4:c.513A>C | ||
| ENST00000374487.6:c.*984A>C | ENSP00000363611.2:n.*984A>C | |
| ENST00000374490.7:c.943A>C | ENSP00000363614.3:p.Ser315Arg | |
| ENST00000436439.6:c.730A>C | ENSP00000389281.2:p.Ser244Arg | |
| NM_000191.2:c.943A>C | NP_000182.2:p.Ser315Arg | |
| NM_001166059.1:c.730A>C | NP_001159531.1:p.Ser244Arg | |
| NM_000191.3:c.943A>C MANE Select | NP_000182.2:p.Ser315Arg | |
| NM_001166059.2:c.730A>C | NP_001159531.1:p.Ser244Arg |