Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585143T>C , CM000673.2:g.67585143T>C | GRCh38 |
| NC_000011.9:g.67352614T>C , CM000673.1:g.67352614T>C | GRCh37 |
| NC_000011.8:g.67109190T>C | NCBI36 |
| NG_012075.1:g.6549T>C , LRG_723:g.6549T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.238T>C | ENSP00000381604.1:p.Tyr80His | |
| ENST00000398606.10:c.238T>C MANE Select | ENSP00000381607.3:p.Tyr80His | |
| ENST00000646888.1:c.131T>C | ENSP00000494477.1:p.Leu44Pro | |
| ENST00000398603.5:c.238T>C | ENSP00000381604.1:p.Tyr80His | |
| ENST00000398606.7:c.238T>C | ENSP00000381607.3:p.Tyr80His | |
| ENST00000467591.1:n.349T>C | ||
| ENST00000494593.1:n.1033T>C | ||
| ENST00000498765.5:c.301T>C | ||
| NM_000852.3:c.238T>C , LRG_723t1:c.238T>C | NP_000843.1:p.Tyr80His | |
| NM_000852.4:c.238T>C MANE Select | NP_000843.1:p.Tyr80His |