Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24178356G= , CM000668.2:g.24178356G= | GRCh38 |
| NC_000006.11:g.24178584G= , CM000668.1:g.24178584G= | GRCh37 |
| NC_000006.10:g.24286563G= | NCBI36 |
| NG_012829.1:g.184697C= | |
| NG_012829.2:g.209937C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.1300C= MANE Select | ENSP00000367715.3:p.Gln434= | |
| ENST00000378450.6:c.559C= | ENSP00000367711.3:p.Gln187= | |
| ENST00000378454.7:c.1300C= | ENSP00000367715.3:p.Gln434= | |
| NM_001195610.1:c.1300C= | NP_001182539.1:p.Gln434= | |
| NM_016356.4:c.1300C= | NP_057440.2:p.Gln434= | |
| NM_016356.5:c.1300C= MANE Select | NP_057440.2:p.Gln434= | |
| NM_001195610.2:c.1300C= | NP_001182539.1:p.Gln434= |