Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43773993T>A , CM000683.2:g.43773993T>A | GRCh38 |
| NC_000021.8:g.45193874T>A , CM000683.1:g.45193874T>A | GRCh37 |
| NC_000021.7:g.44018302T>A | NCBI36 |
| NG_011545.1:g.7386A>T , LRG_485:g.7386A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000100.4:c.*209A>T MANE Select | NP_000091.1:n.*209A>T |
| ENST00000291568.7:c.*209A>T MANE Select | ENSP00000291568.6:n.*209A>T |
| NM_000100.3:c.*209A>T , LRG_485t1:c.*209A>T | NP_000091.1:n.*209A>T |
| ENST00000291568.5:c.*209A>T | ENSP00000291568.5:n.*209A>T |
| ENST00000480147.3:n.2276A>T | |
| ENST00000639959.1:c.373A>T | |
| ENST00000640406.1:c.*581A>T | ENSP00000492672.1:n.*581A>T |
| ENST00000675996.1:n.931A>T |