Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.19626788G>T , CM000674.2:g.19626788G>T | GRCh38 |
| NC_000012.11:g.19779722G>T , CM000674.1:g.19779722G>T | GRCh37 |
| NC_000012.10:g.19670989G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512223.6:c.339-93845G>T | ENSP00000445587.1:n.339-93845G>T | |
| XR_242921.2:n.252+23475G>T | ||
| XR_931408.1:n.76+782G>T | ||
| XR_001749034.2:n.472-23608G>T | ||
| XR_001749035.1:n.525+23475G>T | ||
| XR_001749036.1:n.526-22910G>T | ||
| XR_001749037.1:n.275+23475G>T | ||
| XR_002957408.1:n.133+782G>T |