Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774133T>C , CM000683.2:g.43774133T>C | GRCh38 |
| NC_000021.8:g.45194014T>C , CM000683.1:g.45194014T>C | GRCh37 |
| NC_000021.7:g.44018442T>C | NCBI36 |
| NG_011545.1:g.7246A>G , LRG_485:g.7246A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000100.4:c.*69A>G MANE Select | NP_000091.1:n.*69A>G |
| ENST00000291568.7:c.*69A>G MANE Select | ENSP00000291568.6:n.*69A>G |
| NM_000100.3:c.*69A>G , LRG_485t1:c.*69A>G | NP_000091.1:n.*69A>G |
| ENST00000291568.5:c.*69A>G | ENSP00000291568.5:n.*69A>G |
| ENST00000480147.3:n.2136A>G | |
| ENST00000639959.1:c.233A>G | |
| ENST00000640406.1:c.*441A>G | ENSP00000492672.1:n.*441A>G |
| ENST00000675996.1:n.791A>G |