Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871349T>C , CM000667.2:g.14871349T>C | GRCh38 |
| NC_000005.9:g.14871458T>C , CM000667.1:g.14871458T>C | GRCh37 |
| NC_000005.8:g.14924458T>C | NCBI36 |
| NG_008273.1:g.5430A>G | |
| NG_008273.2:g.5437A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.96+3A>G MANE Select | ENSP00000284268.6:n.96+3A>G | |
| ENST00000284268.6:c.96+3A>G | ENSP00000284268.6:n.96+3A>G | |
| ENST00000505140.1:c.99A>G | ENSP00000426332.1:p.Val33= | |
| ENST00000513115.1:n.121+3A>G | ||
| NM_054027.4:c.96+3A>G | NP_473368.1:n.96+3A>G | |
| XM_011514067.1:c.96+3A>G | XP_011512369.1:n.96+3A>G | |
| NM_054027.5:c.96+3A>G | NP_473368.1:n.96+3A>G | |
| NM_054027.6:c.96+3A>G MANE Select | NP_473368.1:n.96+3A>G |