Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446814G>C , CM000666.2:g.39446814G>C | GRCh38 |
| NC_000004.11:g.39448434G>C , CM000666.1:g.39448434G>C | GRCh37 |
| NC_000004.10:g.39124829G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257408.5:c.2088G>C MANE Select | ENSP00000257408.4:p.Arg696= | |
| ENST00000257408.4:c.2088G>C | ENSP00000257408.4:p.Arg696= | |
| NM_175737.3:c.2088G>C | NP_783864.1:p.Arg696= | |
| XM_005262644.1:c.2061G>C | XP_005262701.1:p.Arg687= | |
| NM_175737.4:c.2088G>C MANE Select | NP_783864.1:p.Arg696= |