Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73610738G>T , CM000664.2:g.73610738G>T | GRCh38 |
| NC_000002.11:g.73837865G>T , CM000664.1:g.73837865G>T | GRCh37 |
| NC_000002.10:g.73691373G>T | NCBI36 |
| NG_011690.1:g.229986G>T , LRG_741:g.229986G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651434.1:c.3933+1056G>T | ||
| ENST00000490821.1:n.523G>T |