Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89180495A>C , CM000673.2:g.89180495A>C | GRCh38 |
| NC_000011.9:g.88913663A>C , CM000673.1:g.88913663A>C | GRCh37 |
| NC_000011.8:g.88553311A>C | NCBI36 |
| NG_008748.1:g.7624A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000372.5:c.819+1723A>C MANE Select | NP_000363.1:n.819+1723A>C |
| ENST00000263321.6:c.819+1723A>C MANE Select | ENSP00000263321.4:n.819+1723A>C |
| NM_000372.4:c.819+1723A>C | NP_000363.1:n.819+1723A>C |
| ENST00000263321.5:c.819+1723A>C | ENSP00000263321.4:n.819+1723A>C |
| ENST00000526139.1:n.880+1723A>C | |
| XM_011542970.1:c.819+1723A>C | XP_011541272.1:n.819+1723A>C |
| XM_011542970.2:c.819+1723A>C | XP_011541272.1:n.819+1723A>C |
| XR_001748321.1:n.2718-66962T>G | |
| XR_001748322.1:n.2733-66962T>G |