Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135107916G>T , CM000667.2:g.135107916G>T | GRCh38 |
| NC_000005.9:g.134443606G>T , CM000667.1:g.134443606G>T | GRCh37 |
| NC_000005.8:g.134471505G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001277348.1:c.-493+55394G>T | NP_001264277.1:n.-493+55394G>T | |
| NR_161235.1:n.336+55394G>T |