Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774243G= , CM000683.2:g.43774243G= | GRCh38 |
| NC_000021.8:g.45194124G= , CM000683.1:g.45194124G= | GRCh37 |
| NC_000021.7:g.44018552G= | NCBI36 |
| NG_011545.1:g.7136C= , LRG_485:g.7136C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.256C= MANE Select | ENSP00000291568.6:p.Gln86= | |
| ENST00000480147.3:n.2026C= | ||
| ENST00000639959.1:c.123C= | ||
| ENST00000640406.1:c.*331C= | ENSP00000492672.1:n.*331C= | |
| ENST00000675996.1:n.681C= | ||
| ENST00000291568.5:c.256C= | ENSP00000291568.5:p.Gln86= | |
| ENST00000480147.1:n.620C= | ||
| NM_000100.3:c.256C= , LRG_485t1:c.256C= | NP_000091.1:p.Gln86= | |
| NM_000100.4:c.256C= MANE Select | NP_000091.1:p.Gln86= |