Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451770C>T , CM000665.2:g.52451770C>T | GRCh38 |
| NC_000003.11:g.52485786C>T , CM000665.1:g.52485786C>T | GRCh37 |
| NC_000003.10:g.52460826C>T | NCBI36 |
| NG_008963.1:g.7272G>A , LRG_378:g.7272G>A | |
| NG_033112.1:g.1263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.291G>A MANE Select | ENSP00000232975.3:p.Leu97= | |
| ENST00000232975.7:c.291G>A | ENSP00000232975.3:p.Leu97= | |
| ENST00000461086.1:n.222G>A | ||
| ENST00000496590.1:c.159G>A | ENSP00000420596.1:p.Leu53= | |
| NM_003280.2:c.291G>A , LRG_378t1:c.291G>A | NP_003271.1:p.Leu97= | |
| NM_003280.3:c.291G>A MANE Select | NP_003271.1:p.Leu97= |