Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157109533C>G , CM000667.2:g.157109533C>G | GRCh38 |
| NC_000005.9:g.156536544C>G , CM000667.1:g.156536544C>G | GRCh37 |
| NC_000005.8:g.156469122C>G | NCBI36 |
| NG_030444.1:g.4705G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524219.2:c.-293-2571G>C | ENSP00000430328.2:n.-293-2571G>C | |
| ENST00000696899.1:c.-264-286G>C | ENSP00000512960.1:n.-264-286G>C | |
| ENST00000696901.1:c.-550G>C | ENSP00000512962.1:n.-550G>C | |
| ENST00000307851.8:c.-550G>C | ENSP00000312002.4:n.-550G>C | |
| ENST00000524219.1:c.-293-2571G>C | ENSP00000430328.1:n.-293-2571G>C |