Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112228675T>G , CM000673.2:g.112228675T>G | GRCh38 |
| NC_000011.9:g.112099398T>G , CM000673.1:g.112099398T>G | GRCh37 |
| NC_000011.8:g.111604608T>G | NCBI36 |
| NG_008743.1:g.7311T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280362.8:c.163+2T>G MANE Select | ENSP00000280362.3:n.163+2T>G | |
| ENST00000280362.7:c.163+2T>G | ENSP00000280362.3:n.163+2T>G | |
| ENST00000524931.1:c.-42+2T>G | ENSP00000434688.1:n.-42+2T>G | |
| ENST00000525645.1:n.240T>G | ||
| ENST00000525803.1:c.163+2T>G | ENSP00000431750.1:n.163+2T>G | |
| ENST00000528679.5:c.163+2T>G | ENSP00000435895.1:n.163+2T>G | |
| ENST00000531673.5:c.163+2T>G | ENSP00000433469.1:n.163+2T>G | |
| NM_000317.2:c.163+2T>G | NP_000308.1:n.163+2T>G | |
| NM_000317.3:c.163+2T>G MANE Select | NP_000308.1:n.163+2T>G |