Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774316G>A , CM000683.2:g.43774316G>A | GRCh38 |
| NC_000021.8:g.45194197G>A , CM000683.1:g.45194197G>A | GRCh37 |
| NC_000021.7:g.44018625G>A | NCBI36 |
| NG_011545.1:g.7063C>T , LRG_485:g.7063C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.183C>T MANE Select | ENSP00000291568.6:p.Asp61= | |
| ENST00000480147.3:n.1953C>T | ||
| ENST00000639959.1:c.50C>T | ||
| ENST00000640406.1:c.*258C>T | ENSP00000492672.1:n.*258C>T | |
| ENST00000675996.1:n.608C>T | ||
| ENST00000291568.5:c.183C>T | ENSP00000291568.5:p.Asp61= | |
| ENST00000480147.1:n.547C>T | ||
| NM_000100.3:c.183C>T , LRG_485t1:c.183C>T | NP_000091.1:p.Asp61= | |
| NM_000100.4:c.183C>T MANE Select | NP_000091.1:p.Asp61= |