Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780588G>C , CM000672.2:g.94780588G>C | GRCh38 |
| NC_000010.10:g.96540345G>C , CM000672.1:g.96540345G>C | GRCh37 |
| NC_000010.9:g.96530335G>C | NCBI36 |
| NG_008384.2:g.22883G>C | |
| NG_008384.3:g.22908G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.571G>C MANE Select | ENSP00000360372.3:p.Asp191His | |
| ENST00000645461.1:n.1624G>C | ||
| ENST00000371321.7:c.571G>C | ENSP00000360372.3:p.Asp191His | |
| ENST00000464755.1:c.1334G>C | ENSP00000483243.1:n.1334G>C | |
| NM_000769.2:c.571G>C | NP_000760.1:p.Asp191His | |
| NM_000769.4:c.571G>C MANE Select | NP_000760.1:p.Asp191His |