Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303750C= , CM000675.2:g.48303750C= | GRCh38 |
| NC_000013.10:g.48877886C= , CM000675.1:g.48877886C= | GRCh37 |
| NC_000013.9:g.47775887C= | NCBI36 |
| NG_009009.1:g.5004C= , LRG_517:g.5004C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646097.1:c.-163C= | ENSP00000496556.1:n.-163C= | |
| ENST00000650461.1:c.-163C= | ENSP00000497193.1:n.-163C= | |
| NM_000321.2:c.-163C= , LRG_517t1:c.-163C= | NP_000312.2:n.-163C= |