dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34462995T>G , CM000673.2:g.34462995T>G | GRCh38 |
| NC_000011.9:g.34484542T>G , CM000673.1:g.34484542T>G | GRCh37 |
| NC_000011.8:g.34441118T>G | NCBI36 |
| NG_013339.1:g.29071T>G | |
| NG_013339.2:g.29071T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241052.5:c.1196-1110T>G MANE Select | ENSP00000241052.4:n.1196-1110T>G | |
| ENST00000241052.4:c.1196-1110T>G | ENSP00000241052.4:n.1196-1110T>G | |
| ENST00000525707.1:n.188-1110T>G | ||
| ENST00000530343.1:n.658-1110T>G | ||
| NM_001752.3:c.1196-1110T>G | NP_001743.1:n.1196-1110T>G | |
| NM_001752.4:c.1196-1110T>G MANE Select | NP_001743.1:n.1196-1110T>G |