Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.7058502T>C , CM000673.2:g.7058502T>C | GRCh38 |
| NC_000011.9:g.7079733T>C , CM000673.1:g.7079733T>C | GRCh37 |
| NC_000011.8:g.7036309T>C | NCBI36 |
| NG_046900.1:g.43057T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299481.5:c.2633+52T>C MANE Select | ENSP00000299481.5:n.2633+52T>C | |
| ENST00000299481.4:c.2633+52T>C | ENSP00000299481.4:n.2633+52T>C | |
| NM_176822.3:c.2633+52T>C | NP_789792.1:n.2633+52T>C | |
| XM_011520044.1:c.2462+52T>C | XP_011518346.1:n.2462+52T>C | |
| XM_011520045.1:c.2462+52T>C | XP_011518347.1:n.2462+52T>C | |
| NM_176822.4:c.2633+52T>C MANE Select | NP_789792.1:n.2633+52T>C |