Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446952G>T , CM000666.2:g.39446952G>T | GRCh38 |
| NC_000004.11:g.39448572G>T , CM000666.1:g.39448572G>T | GRCh37 |
| NC_000004.10:g.39124967G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257408.5:c.2226G>T MANE Select | ENSP00000257408.4:p.Leu742= | |
| ENST00000257408.4:c.2226G>T | ENSP00000257408.4:p.Leu742= | |
| NM_175737.3:c.2226G>T | NP_783864.1:p.Leu742= | |
| XM_005262644.1:c.2199G>T | XP_005262701.1:p.Leu733= | |
| NM_175737.4:c.2226G>T MANE Select | NP_783864.1:p.Leu742= |