Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123034325C= , CM000672.2:g.123034325C= | GRCh38 |
| NC_000010.10:g.124793841C= , CM000672.1:g.124793841C= | GRCh37 |
| NC_000010.9:g.124783831C= | NCBI36 |
| NG_008003.1:g.30413C= , LRG_451:g.30413C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358776.7:c.43-31C= MANE Select | ENSP00000357873.3:n.43-31C= | |
| ENST00000358776.6:c.43-31C= | ENSP00000357873.3:n.43-31C= | |
| ENST00000368869.8:c.-163-31C= | ENSP00000357862.4:n.-163-31C= | |
| ENST00000411816.2:n.60-31C= | ||
| NM_001609.3:c.43-31C= , LRG_451t1:c.43-31C= | NP_001600.1:n.43-31C= | |
| NM_001330174.1:c.-163-31C= | NP_001317103.1:n.-163-31C= | |
| NM_001330174.2:c.-163-31C= | NP_001317103.1:n.-163-31C= | |
| NM_001609.4:c.43-31C= MANE Select | NP_001600.1:n.43-31C= | |
| NM_001330174.3:c.-163-31C= | NP_001317103.1:n.-163-31C= |