Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55106807T= , CM000666.2:g.55106807T= | GRCh38 |
| NC_000004.11:g.55972974T= , CM000666.1:g.55972974T= | GRCh37 |
| NC_000004.10:g.55667731T= | NCBI36 |
| NG_012004.1:g.23789A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002253.4:c.1416A= MANE Select | NP_002244.1:p.Gln472= |
| ENST00000263923.5:c.1416A= MANE Select | ENSP00000263923.4:p.Gln472= |
| NM_002253.2:c.1416A= | NP_002244.1:p.Gln472= |
| NM_002253.3:c.1416A= | NP_002244.1:p.Gln472= |
| ENST00000263923.4:c.1416A= | ENSP00000263923.4:p.Gln472= |
| ENST00000512566.1:n.1416A= | |
| ENST00000647068.1:n.1429A= |