Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472261G>C , CM000677.2:g.40472261G>C | GRCh38 |
| NC_000015.9:g.40764460G>C , CM000677.1:g.40764460G>C | GRCh37 |
| NC_000015.8:g.38551752G>C | NCBI36 |
| NG_017074.1:g.6301G>C , LRG_600:g.6301G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.1048G>C MANE Select | ENSP00000307297.6:p.Asp350His | |
| ENST00000306243.6:c.1048G>C | ENSP00000307297.5:p.Asp350His | |
| ENST00000559991.1:c.973G>C | ENSP00000453882.1:p.Asp325His | |
| NM_130468.3:c.1048G>C , LRG_600t1:c.1048G>C | NP_569735.1:p.Asp350His | |
| NM_130468.4:c.1048G>C MANE Select | NP_569735.1:p.Asp350His |