Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124874910G>A , CM000673.2:g.124874910G>A | GRCh38 |
| NC_000011.9:g.124744806G>A , CM000673.1:g.124744806G>A | GRCh37 |
| NC_000011.8:g.124250016G>A | NCBI36 |
| NG_016214.1:g.14502G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022370.4:c.2073+1G>A MANE Select | NP_071765.2:n.2073+1G>A |
| ENST00000397801.6:c.2073+1G>A MANE Select | ENSP00000380903.1:n.2073+1G>A |
| NM_022370.3:c.2073+1G>A | NP_071765.2:n.2073+1G>A |
| ENST00000397801.5:c.2073+1G>A | ENSP00000380903.1:n.2073+1G>A |
| ENST00000538940.5:c.2007+1G>A | ENSP00000441797.1:n.2007+1G>A |
| XM_011542953.1:c.3045+1G>A | XP_011541255.1:n.3045+1G>A |
| XM_017018122.1:c.2007+1G>A | XP_016873611.1:n.2007+1G>A |