Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247457731G= , CM000663.2:g.247457731G= | GRCh38 |
| NC_000001.10:g.247621033G= , CM000663.1:g.247621033G= | GRCh37 |
| NC_000001.9:g.245687656G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001004492.2:c.-3175C= MANE Select | NP_001004492.1:n.-3175C= |
| ENST00000641149.2:c.-3175C= MANE Select | ENSP00000492892.1:n.-3175C= |
| NR_169840.1:n.278C= | |
| ENST00000641149.1:c.-3175C= | ENSP00000492892.1:n.-3175C= |
| ENST00000641527.1:c.-1306C= | ENSP00000493421.1:n.-1306C= |
| ENST00000641613.1:n.278C= |