Linked Data
gnomAD v4:
11-67586509-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586509A>C , CM000673.2:g.67586509A>C | GRCh38 |
| NC_000011.9:g.67353980A>C , CM000673.1:g.67353980A>C | GRCh37 |
| NC_000011.8:g.67110556A>C | NCBI36 |
| NG_012075.1:g.7915A>C , LRG_723:g.7915A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.457A>C | ENSP00000381604.1:p.Lys153Gln | |
| ENST00000398606.10:c.565A>C MANE Select | ENSP00000381607.3:p.Lys189Gln | |
| ENST00000398603.5:c.457A>C | ENSP00000381604.1:p.Lys153Gln | |
| ENST00000398606.7:c.565A>C | ENSP00000381607.3:p.Lys189Gln | |
| ENST00000467591.1:n.676A>C | ||
| ENST00000494593.1:n.1537A>C | ||
| ENST00000498765.5:c.628A>C | ||
| NM_000852.3:c.565A>C , LRG_723t1:c.565A>C | NP_000843.1:p.Lys189Gln | |
| NM_000852.4:c.565A>C MANE Select | NP_000843.1:p.Lys189Gln |