Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67584735G>C , CM000673.2:g.67584735G>C | GRCh38 |
| NC_000011.9:g.67352206G>C , CM000673.1:g.67352206G>C | GRCh37 |
| NC_000011.8:g.67108782G>C | NCBI36 |
| NG_012075.1:g.6141G>C , LRG_723:g.6141G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.195G>C | ENSP00000381604.1:p.Gln65His | |
| ENST00000398606.10:c.195G>C MANE Select | ENSP00000381607.3:p.Gln65His | |
| ENST00000646888.1:c.88G>C | ENSP00000494477.1:p.Val30Leu | |
| ENST00000398603.5:c.195G>C | ENSP00000381604.1:p.Gln65His | |
| ENST00000398606.7:c.195G>C | ENSP00000381607.3:p.Gln65His | |
| ENST00000489040.1:n.194G>C | ||
| ENST00000494593.1:n.625G>C | ||
| ENST00000498765.5:c.158G>C | ||
| NM_000852.3:c.195G>C , LRG_723t1:c.195G>C | NP_000843.1:p.Gln65His | |
| NM_000852.4:c.195G>C MANE Select | NP_000843.1:p.Gln65His |