Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.124977316C>G , CM000670.2:g.124977316C>G | GRCh38 |
| NC_000008.10:g.125989558C>G , CM000670.1:g.125989558C>G | GRCh37 |
| NC_000008.9:g.126058739C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152412.3:c.1048C>G MANE Select | NP_689625.2:p.His350Asp |
| ENST00000319286.6:c.1048C>G MANE Select | ENSP00000319305.5:p.His350Asp |
| NM_152412.2:c.1048C>G | NP_689625.2:p.His350Asp |
| ENST00000319286.5:c.1048C>G | ENSP00000319305.5:p.His350Asp |
| XM_011516828.1:c.1171C>G | XP_011515130.1:p.His391Asp |
| XM_011516829.1:c.1048C>G | XP_011515131.1:p.His350Asp |
| XM_011516830.1:c.1048C>G | XP_011515132.1:p.His350Asp |