Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714242G= , CM000681.2:g.6714242G= | GRCh38 |
| NC_000019.9:g.6714253G= , CM000681.1:g.6714253G= | GRCh37 |
| NC_000019.8:g.6665253G= | NCBI36 |
| NG_009557.1:g.11410C= , LRG_27:g.11410C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.483C= | ENSP00000512083.1:p.Gly161= | |
| ENST00000245907.11:c.606C= MANE Select | ENSP00000245907.4:p.Gly202= | |
| ENST00000245907.10:c.606C= | ENSP00000245907.4:p.Gly202= | |
| ENST00000595577.1:n.110C= | ||
| NM_000064.3:c.606C= | NP_000055.2:p.Gly202= | |
| NM_000064.4:c.606C= MANE Select | NP_000055.2:p.Gly202= |