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