Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52772254G= , CM000672.2:g.52772254G= | GRCh38 |
| NC_000010.10:g.54532014G= , CM000672.1:g.54532014G= | GRCh37 |
| NC_000010.9:g.54202020G= | NCBI36 |
| NG_008196.1:g.4447C= , LRG_154:g.4447C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378373.1:c.-10+483C= MANE Select | NP_001365302.1:n.-10+483C= |
| ENST00000674931.1:c.-10+483C= MANE Select | ENSP00000502789.1:n.-10+483C= |
| NM_001378374.1:c.-25+483C= | NP_001365303.1:n.-25+483C= |
| ENST00000675947.1:c.-25+483C= | ENSP00000502615.1:n.-25+483C= |
| XM_006717861.2:c.-25+483C= | XP_006717924.1:n.-25+483C= |
| XM_006717861.4:c.-25+483C= | XP_006717924.1:n.-25+483C= |
| XM_011539816.1:c.-10+483C= | XP_011538118.1:n.-10+483C= |
| XM_011539816.3:c.-10+483C= | XP_011538118.1:n.-10+483C= |