Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774226C>T , CM000683.2:g.43774226C>T | GRCh38 |
| NC_000021.8:g.45194107C>T , CM000683.1:g.45194107C>T | GRCh37 |
| NC_000021.7:g.44018535C>T | NCBI36 |
| NG_011545.1:g.7153G>A , LRG_485:g.7153G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.273G>A MANE Select | ENSP00000291568.6:p.Lys91= | |
| ENST00000480147.3:n.2043G>A | ||
| ENST00000639959.1:c.140G>A | ||
| ENST00000640406.1:c.*348G>A | ENSP00000492672.1:n.*348G>A | |
| ENST00000675996.1:n.698G>A | ||
| ENST00000291568.5:c.273G>A | ENSP00000291568.5:p.Lys91= | |
| ENST00000480147.1:n.637G>A | ||
| NM_000100.3:c.273G>A , LRG_485t1:c.273G>A | NP_000091.1:p.Lys91= | |
| NM_000100.4:c.273G>A MANE Select | NP_000091.1:p.Lys91= |