Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55091372G>C , CM000666.2:g.55091372G>C | GRCh38 |
| NC_000004.11:g.55957539G>C , CM000666.1:g.55957539G>C | GRCh37 |
| NC_000004.10:g.55652296G>C | NCBI36 |
| NG_012004.1:g.39224C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.3069+1245C>G MANE Select | ENSP00000263923.4:n.3069+1245C>G | |
| ENST00000647068.1:n.3082+1245C>G | ||
| ENST00000263923.4:c.3069+1245C>G | ENSP00000263923.4:n.3069+1245C>G | |
| NM_002253.2:c.3069+1245C>G | NP_002244.1:n.3069+1245C>G | |
| NM_002253.3:c.3069+1245C>G | NP_002244.1:n.3069+1245C>G | |
| NM_002253.4:c.3069+1245C>G MANE Select | NP_002244.1:n.3069+1245C>G |