Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80864946T>G , CM000667.2:g.80864946T>G | GRCh38 |
| NC_000005.9:g.80160765T>G , CM000667.1:g.80160765T>G | GRCh37 |
| NC_000005.8:g.80196521T>G | NCBI36 |
| NG_016607.1:g.215472T>G | |
| NG_016607.2:g.215472T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.3130+4T>G MANE Select | NP_002430.3:n.3130+4T>G |
| ENST00000265081.7:c.3130+4T>G MANE Select | ENSP00000265081.6:n.3130+4T>G |
| NM_002439.4:c.3130+4T>G | NP_002430.3:n.3130+4T>G |
| ENST00000265081.6:c.3130+4T>G | ENSP00000265081.6:n.3130+4T>G |
| ENST00000658259.1:c.2962+4T>G | ENSP00000499617.1:n.2962+4T>G |
| ENST00000659302.1:c.538+4T>G | |
| ENST00000667069.1:c.2935+4T>G | ENSP00000499502.1:n.2935+4T>G |
| ENST00000670357.1:c.*454+4T>G | ENSP00000499791.1:n.*454+4T>G |