Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46311342T>G , CM000673.2:g.46311342T>G | GRCh38 |
| NC_000011.9:g.46332893T>G , CM000673.1:g.46332893T>G | GRCh37 |
| NC_000011.8:g.46289469T>G | NCBI36 |
| NG_033264.1:g.38705T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052854.4:c.753+153T>G MANE Select | NP_443086.1:n.753+153T>G |
| ENST00000621158.5:c.753+153T>G MANE Select | ENSP00000481956.1:n.753+153T>G |
| NM_052854.3:c.753+153T>G | NP_443086.1:n.753+153T>G |
| ENST00000527342.1:n.276+153T>G | |
| ENST00000530518.1:c.33+153T>G | ENSP00000436574.1:n.33+153T>G |
| ENST00000621158.4:c.753+153T>G | ENSP00000481956.1:n.753+153T>G |
| XM_006718380.2:c.753+153T>G | XP_006718443.1:n.753+153T>G |
| XM_006718380.3:c.753+153T>G | XP_006718443.1:n.753+153T>G |