Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665797C= , CM000663.2:g.172665797C= | GRCh38 |
| NC_000001.10:g.172634937C= , CM000663.1:g.172634937C= | GRCh37 |
| NC_000001.9:g.170901560C= | NCBI36 |
| NG_007269.1:g.11753C= , LRG_58:g.11753C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.627C= MANE Select | ENSP00000356694.2:p.His209= | |
| ENST00000340030.4:c.*197C= | ENSP00000344739.3:n.*197C= | |
| ENST00000367721.2:c.627C= | ENSP00000356694.2:p.His209= | |
| NM_000639.2:c.627C= | NP_000630.1:p.His209= | |
| NM_001302746.1:c.*197C= | NP_001289675.1:n.*197C= | |
| NM_000639.3:c.627C= MANE Select | NP_000630.1:p.His209= | |
| NM_001302746.2:c.*197C= | NP_001289675.1:n.*197C= |