Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116778252A>T , CM000673.2:g.116778252A>T | GRCh38 |
| NC_000011.9:g.116648968A>T , CM000673.1:g.116648968A>T | GRCh37 |
| NC_000011.8:g.116154178A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.*673T>A MANE Select | ENSP00000227322.3:n.*673T>A | |
| ENST00000227322.7:c.*673T>A | ENSP00000227322.3:n.*673T>A | |
| ENST00000429220.5:c.1832T>A | ||
| ENST00000444935.5:c.1965T>A | ||
| NM_001317086.1:c.*673T>A | NP_001304015.1:n.*673T>A | |
| NM_003904.4:c.*673T>A | NP_003895.1:n.*673T>A | |
| NM_003904.5:c.*673T>A MANE Select | NP_003895.1:n.*673T>A | |
| NM_001317086.2:c.*673T>A | NP_001304015.1:n.*673T>A |