Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177403T>C , CM000678.2:g.177403T>C | GRCh38 |
| NC_000016.9:g.227402T>C , CM000678.1:g.227402T>C | GRCh37 |
| NC_000016.8:g.167402T>C | NCBI36 |
| NG_000006.1:g.38266T>C | |
| NG_059186.1:g.5753T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.421T>C MANE Select | ENSP00000322421.5:p.Tyr141His | |
| ENST00000397797.1:c.325T>C | ENSP00000380899.1:p.Tyr109His | |
| ENST00000472694.1:n.557T>C | ||
| NM_000558.4:c.421T>C | NP_000549.1:p.Tyr141His | |
| NM_000558.5:c.421T>C MANE Select | NP_000549.1:p.Tyr141His |