Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189008933G= , CM000664.2:g.189008933G= | GRCh38 |
| NC_000002.11:g.189873659G= , CM000664.1:g.189873659G= | GRCh37 |
| NC_000002.10:g.189581904G= | NCBI36 |
| NG_007404.1:g.39561G= , LRG_3:g.39561G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3436G= | ENSP00000415346.2:p.Gly1146= | |
| ENST00000304636.9:c.3535G= MANE Select | ENSP00000304408.4:p.Gly1179= | |
| ENST00000304636.7:c.3535G= | ENSP00000304408.3:p.Gly1179= | |
| ENST00000317840.9:c.2626G= | ENSP00000315243.6:p.Gly876= | |
| ENST00000487010.1:n.632G= | ||
| NM_000090.3:c.3535G= , LRG_3t1:c.3535G= | NP_000081.1:p.Gly1179= | |
| NM_000090.4:c.3535G= MANE Select | NP_000081.2:p.Gly1179= |