Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34008146C>G , CM000667.2:g.34008146C>G | GRCh38 |
| NC_000005.9:g.34008251C>G , CM000667.1:g.34008251C>G | GRCh37 |
| NC_000005.8:g.34044008C>G | NCBI36 |
| NG_016211.1:g.4970G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382079.3:c.690-2247G>C | ENSP00000371511.3:n.690-2247G>C | |
| NR_037951.1:n.765-2247G>C |