Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665770A= , CM000663.2:g.172665770A= | GRCh38 |
| NC_000001.10:g.172634910A= , CM000663.1:g.172634910A= | GRCh37 |
| NC_000001.9:g.170901533A= | NCBI36 |
| NG_007269.1:g.11726A= , LRG_58:g.11726A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.600A= MANE Select | ENSP00000356694.2:p.Gln200= | |
| ENST00000340030.4:c.*170A= | ENSP00000344739.3:n.*170A= | |
| ENST00000367721.2:c.600A= | ENSP00000356694.2:p.Gln200= | |
| NM_000639.2:c.600A= | NP_000630.1:p.Gln200= | |
| NM_001302746.1:c.*170A= | NP_001289675.1:n.*170A= | |
| NM_000639.3:c.600A= MANE Select | NP_000630.1:p.Gln200= | |
| NM_001302746.2:c.*170A= | NP_001289675.1:n.*170A= |