Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451511T>C , CM000665.2:g.52451511T>C | GRCh38 |
| NC_000003.11:g.52485527T>C , CM000665.1:g.52485527T>C | GRCh37 |
| NC_000003.10:g.52460567T>C | NCBI36 |
| NG_008963.1:g.7531A>G , LRG_378:g.7531A>G | |
| NG_033112.1:g.1004T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.334A>G MANE Select | ENSP00000232975.3:p.Ile112Val | |
| ENST00000232975.7:c.334A>G | ENSP00000232975.3:p.Ile112Val | |
| ENST00000461086.1:n.265A>G | ||
| ENST00000496590.1:c.202A>G | ENSP00000420596.1:p.Ile68Val | |
| NM_003280.2:c.334A>G , LRG_378t1:c.334A>G | NP_003271.1:p.Ile112Val | |
| NM_003280.3:c.334A>G MANE Select | NP_003271.1:p.Ile112Val |