Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189008935C= , CM000664.2:g.189008935C= | GRCh38 |
| NC_000002.11:g.189873661C= , CM000664.1:g.189873661C= | GRCh37 |
| NC_000002.10:g.189581906C= | NCBI36 |
| NG_007404.1:g.39563C= , LRG_3:g.39563C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3438C= | ENSP00000415346.2:p.Gly1146= | |
| ENST00000304636.9:c.3537C= MANE Select | ENSP00000304408.4:p.Gly1179= | |
| ENST00000304636.7:c.3537C= | ENSP00000304408.3:p.Gly1179= | |
| ENST00000317840.9:c.2628C= | ENSP00000315243.6:p.Gly876= | |
| ENST00000487010.1:n.634C= | ||
| NM_000090.3:c.3537C= , LRG_3t1:c.3537C= | NP_000081.1:p.Gly1179= | |
| NM_000090.4:c.3537C= MANE Select | NP_000081.2:p.Gly1179= |