Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.19626794A= , CM000674.2:g.19626794A= | GRCh38 |
| NC_000012.11:g.19779728A= , CM000674.1:g.19779728A= | GRCh37 |
| NC_000012.10:g.19670995A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512223.6:c.339-93839A= | ENSP00000445587.1:n.339-93839A= | |
| XR_242921.2:n.252+23481A= | ||
| XR_931408.1:n.76+788A= | ||
| XR_001749034.2:n.472-23602A= | ||
| XR_001749035.1:n.525+23481A= | ||
| XR_001749036.1:n.526-22904A= | ||
| XR_001749037.1:n.275+23481A= | ||
| XR_002957408.1:n.133+788A= |