Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41926216C>T , CM000684.2:g.41926216C>T | GRCh38 |
| NC_000022.10:g.42322220C>T , CM000684.1:g.42322220C>T | GRCh37 |
| NC_000022.9:g.40652166C>T | NCBI36 |
| NG_007579.1:g.5602G>A , LRG_184:g.5602G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291232.5:c.252G>A MANE Select | ENSP00000291232.3:p.Leu84= | |
| ENST00000291232.4:c.252G>A | ENSP00000291232.3:p.Leu84= | |
| NM_052945.3:c.252G>A , LRG_184t1:c.252G>A | NP_443177.1:p.Leu84= | |
| NM_052945.4:c.252G>A MANE Select | NP_443177.1:p.Leu84= |