Linked Data
gnomAD v4:
11-67586507-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586507C>A , CM000673.2:g.67586507C>A | GRCh38 |
| NC_000011.9:g.67353978C>A , CM000673.1:g.67353978C>A | GRCh37 |
| NC_000011.8:g.67110554C>A | NCBI36 |
| NG_012075.1:g.7913C>A , LRG_723:g.7913C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.455C>A | ENSP00000381604.1:p.Pro152His | |
| ENST00000398606.10:c.563C>A MANE Select | ENSP00000381607.3:p.Pro188His | |
| ENST00000398603.5:c.455C>A | ENSP00000381604.1:p.Pro152His | |
| ENST00000398606.7:c.563C>A | ENSP00000381607.3:p.Pro188His | |
| ENST00000467591.1:n.674C>A | ||
| ENST00000494593.1:n.1535C>A | ||
| ENST00000498765.5:c.626C>A | ||
| NM_000852.3:c.563C>A , LRG_723t1:c.563C>A | NP_000843.1:p.Pro188His | |
| NM_000852.4:c.563C>A MANE Select | NP_000843.1:p.Pro188His |