Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123375621G>C , CM000668.2:g.123375621G>C | GRCh38 |
| NC_000006.11:g.123696766G>C , CM000668.1:g.123696766G>C | GRCh37 |
| NC_000006.10:g.123738465G>C | NCBI36 |
| NG_030438.1:g.266473C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006073.4:c.1257C>G MANE Select | NP_006064.2:p.Asp419Glu |
| ENST00000334268.9:c.1257C>G MANE Select | ENSP00000333984.5:p.Asp419Glu |
| NM_001251987.1:c.1260C>G | NP_001238916.1:p.Asp420Glu |
| NM_001251987.2:c.1260C>G | NP_001238916.1:p.Asp420Glu |
| NM_006073.3:c.1257C>G | NP_006064.2:p.Asp419Glu |
| ENST00000334268.8:c.1257C>G | ENSP00000333984.5:p.Asp419Glu |
| ENST00000662930.1:c.1260C>G | ENSP00000499585.1:p.Asp420Glu |
| XM_011535382.1:c.1254C>G | XP_011533684.1:p.Asp418Glu |