Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74003826C>T , CM000673.2:g.74003826C>T | GRCh38 |
| NC_000011.9:g.73714871C>T , CM000673.1:g.73714871C>T | GRCh37 |
| NC_000011.8:g.73392519C>T | NCBI36 |
| NG_011515.1:g.10412G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314032.9:c.824+1G>A MANE Select | ENSP00000323740.4:n.824+1G>A | |
| ENST00000314032.8:c.824+1G>A | ENSP00000323740.4:n.824+1G>A | |
| ENST00000426995.2:c.825G>A | ENSP00000392143.2:p.Gly275= | |
| NM_003356.3:c.824+1G>A | NP_003347.1:n.824+1G>A | |
| NM_022803.2:c.825G>A | NP_073714.1:p.Gly275= | |
| XR_950298.1:n.1768+7792C>T | ||
| NM_003356.4:c.824+1G>A MANE Select | NP_003347.1:n.824+1G>A | |
| NM_022803.3:c.825G>A | NP_073714.1:p.Gly275= |