Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206116708C= , CM000663.2:g.206116708C= | GRCh38 |
| NC_000001.10:g.206224623G= , CM000663.1:g.206224623G= | GRCh37 |
| NC_000001.9:g.204391246G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367126.5:c.183G= MANE Select | ENSP00000356094.4:p.Gln61= | |
| ENST00000367126.4:c.183G= | ENSP00000356094.4:p.Gln61= | |
| ENST00000612906.1:n.36+956G= | ||
| NM_000707.3:c.183G= | NP_000698.1:p.Gln61= | |
| NM_000707.4:c.183G= | NP_000698.1:p.Gln61= | |
| NM_000707.5:c.183G= MANE Select | NP_000698.1:p.Gln61= |