Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74339697C= , CM000677.2:g.74339697C= | GRCh38 |
| NC_000015.9:g.74632038C= , CM000677.1:g.74632038C= | GRCh37 |
| NC_000015.8:g.72419091C= | NCBI36 |
| NG_007973.1:g.33045G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268053.11:c.1047G= MANE Select | ENSP00000268053.6:p.Gln349= | |
| ENST00000268053.10:c.1047G= | ENSP00000268053.6:p.Gln349= | |
| ENST00000358632.8:c.573G= | ENSP00000351455.4:p.Gln191= | |
| ENST00000435365.5:c.1047G= | ENSP00000391081.1:p.Gln349= | |
| ENST00000566674.5:c.573G= | ENSP00000456941.1:p.Gln191= | |
| NM_000781.2:c.1047G= | NP_000772.2:p.Gln349= | |
| NM_001099773.1:c.573G= | NP_001093243.1:p.Gln191= | |
| NM_000781.3:c.1047G= MANE Select | NP_000772.2:p.Gln349= | |
| NM_001099773.2:c.573G= | NP_001093243.1:p.Gln191= |