Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68439603T>G , CM000663.2:g.68439603T>G | GRCh38 |
| NC_000001.10:g.68905286T>G , CM000663.1:g.68905286T>G | GRCh37 |
| NC_000001.9:g.68677874T>G | NCBI36 |
| NG_008472.1:g.15357A>C | |
| NG_008472.2:g.15357A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.683A>C MANE Select | ENSP00000262340.5:p.Gln228Pro | |
| ENST00000262340.5:c.683A>C | ENSP00000262340.5:p.Gln228Pro | |
| NM_000329.2:c.683A>C | NP_000320.1:p.Gln228Pro | |
| XM_017002027.1:c.407A>C | XP_016857516.1:p.Gln136Pro | |
| NM_000329.3:c.683A>C MANE Select | NP_000320.1:p.Gln228Pro |