Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89284930G>C , CM000673.2:g.89284930G>C | GRCh38 |
| NC_000011.9:g.89018098G>C , CM000673.1:g.89018098G>C | GRCh37 |
| NC_000011.8:g.88657746G>C | NCBI36 |
| NG_008748.1:g.112059G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263321.6:c.1342G>C MANE Select | ENSP00000263321.4:p.Asp448His | |
| ENST00000263321.5:c.1342G>C | ENSP00000263321.4:p.Asp448His | |
| ENST00000528243.1:n.340G>C | ||
| NM_000372.4:c.1342G>C | NP_000363.1:p.Asp448His | |
| XM_011542970.1:c.1342G>C | XP_011541272.1:p.Asp448His | |
| XM_011542970.2:c.1342G>C | XP_011541272.1:p.Asp448His | |
| XR_001748321.1:n.2456+1104C>G | ||
| XR_001748322.1:n.2457+1104C>G | ||
| NM_000372.5:c.1342G>C MANE Select | NP_000363.1:p.Asp448His |