Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157109479C>G , CM000667.2:g.157109479C>G | GRCh38 |
| NC_000005.9:g.156536490C>G , CM000667.1:g.156536490C>G | GRCh37 |
| NC_000005.8:g.156469068C>G | NCBI36 |
| NG_030444.1:g.4759G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524219.2:c.-293-2517G>C | ENSP00000430328.2:n.-293-2517G>C | |
| ENST00000696899.1:c.-264-232G>C | ENSP00000512960.1:n.-264-232G>C | |
| ENST00000696901.1:c.-496G>C | ENSP00000512962.1:n.-496G>C | |
| ENST00000307851.8:c.-496G>C | ENSP00000312002.4:n.-496G>C | |
| ENST00000524219.1:c.-293-2517G>C | ENSP00000430328.1:n.-293-2517G>C |