Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446919G= , CM000666.2:g.39446919G= | GRCh38 |
| NC_000004.11:g.39448539G= , CM000666.1:g.39448539G= | GRCh37 |
| NC_000004.10:g.39124934G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257408.5:c.2193G= MANE Select | ENSP00000257408.4:p.Arg731= | |
| ENST00000257408.4:c.2193G= | ENSP00000257408.4:p.Arg731= | |
| NM_175737.3:c.2193G= | NP_783864.1:p.Arg731= | |
| XM_005262644.1:c.2166G= | XP_005262701.1:p.Arg722= | |
| NM_175737.4:c.2193G= MANE Select | NP_783864.1:p.Arg731= |