Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648234C>G , CM000673.2:g.69648234C>G | GRCh38 |
| NC_000011.9:g.69463002C>G , CM000673.1:g.69463002C>G | GRCh37 |
| NC_000011.8:g.69172183C>G | NCBI36 |
| NG_007375.1:g.12130C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+92C>G MANE Select | ENSP00000227507.2:n.723+92C>G | |
| ENST00000227507.2:c.723+92C>G | ENSP00000227507.2:n.723+92C>G | |
| ENST00000536559.1:c.*235C>G | ENSP00000438482.1:n.*235C>G | |
| ENST00000542367.1:n.186+92C>G | ||
| NM_053056.2:c.723+92C>G | NP_444284.1:n.723+92C>G | |
| XM_006718653.2:c.747+92C>G | XP_006718716.1:n.747+92C>G | |
| NM_053056.3:c.723+92C>G MANE Select | NP_444284.1:n.723+92C>G |