Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445801C= , CM000663.2:g.15445801C= | GRCh38 |
| NC_000001.10:g.15772296C= , CM000663.1:g.15772296C= | GRCh37 |
| NC_000001.9:g.15644883C= | NCBI36 |
| NG_009253.1:g.12359C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.792+52C= MANE Select | ENSP00000365116.4:n.792+52C= | |
| ENST00000375943.6:c.*246+52C= | ENSP00000365110.2:n.*246+52C= | |
| ENST00000375949.4:c.792+52C= | ENSP00000365116.4:n.792+52C= | |
| ENST00000483406.1:n.556+52C= | ||
| NM_007272.2:c.792+52C= | NP_009203.2:n.792+52C= | |
| XM_011540550.1:c.646+52C= | XP_011538852.1:n.646+52C= | |
| NM_007272.3:c.792+52C= MANE Select | NP_009203.2:n.792+52C= |