Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290998T= , CM000668.2:g.24290998T= | GRCh38 |
| NC_000006.11:g.24291226T= , CM000668.1:g.24291226T= | GRCh37 |
| NC_000006.10:g.24399205T= | NCBI36 |
| NG_012829.1:g.72055A= | |
| NG_012829.2:g.97295A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378454.8:c.638A= MANE Select | ENSP00000367715.3:p.Asp213= | |
| ENST00000378454.7:c.638A= | ENSP00000367715.3:p.Asp213= | |
| NM_001195610.1:c.638A= | NP_001182539.1:p.Asp213= | |
| NM_016356.4:c.638A= | NP_057440.2:p.Asp213= | |
| NM_016356.5:c.638A= MANE Select | NP_057440.2:p.Asp213= | |
| NM_001195610.2:c.638A= | NP_001182539.1:p.Asp213= |