Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24178396A= , CM000668.2:g.24178396A= | GRCh38 |
| NC_000006.11:g.24178624A= , CM000668.1:g.24178624A= | GRCh37 |
| NC_000006.10:g.24286603A= | NCBI36 |
| NG_012829.1:g.184657T= | |
| NG_012829.2:g.209897T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378454.8:c.1260T= MANE Select | ENSP00000367715.3:p.Asn420= | |
| ENST00000378450.6:c.519T= | ENSP00000367711.3:p.Asn173= | |
| ENST00000378454.7:c.1260T= | ENSP00000367715.3:p.Asn420= | |
| NM_001195610.1:c.1260T= | NP_001182539.1:p.Asn420= | |
| NM_016356.4:c.1260T= | NP_057440.2:p.Asn420= | |
| NM_016356.5:c.1260T= MANE Select | NP_057440.2:p.Asn420= | |
| NM_001195610.2:c.1260T= | NP_001182539.1:p.Asn420= |