Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228166159T>G , CM000663.2:g.228166159T>G | GRCh38 |
| NC_000001.10:g.228353860T>G , CM000663.1:g.228353860T>G | GRCh37 |
| NC_000001.9:g.226420483T>G | NCBI36 |
| NG_042231.1:g.5352T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001010867.4:c.341+2T>G MANE Select | NP_001010867.1:n.341+2T>G |
| ENST00000366711.4:c.341+2T>G MANE Select | ENSP00000355672.3:n.341+2T>G |
| NM_001010867.2:c.341+2T>G | NP_001010867.1:n.341+2T>G |
| NM_001010867.3:c.341+2T>G | NP_001010867.1:n.341+2T>G |
| ENST00000366711.3:c.341+2T>G | ENSP00000355672.3:n.341+2T>G |
| XM_006711753.2:c.341+2T>G | XP_006711816.1:n.341+2T>G |