Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157109451C>T , CM000667.2:g.157109451C>T | GRCh38 |
| NC_000005.9:g.156536462C>T , CM000667.1:g.156536462C>T | GRCh37 |
| NC_000005.8:g.156469040C>T | NCBI36 |
| NG_030444.1:g.4787G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524219.2:c.-293-2489G>A | ENSP00000430328.2:n.-293-2489G>A | |
| ENST00000696899.1:c.-264-204G>A | ENSP00000512960.1:n.-264-204G>A | |
| ENST00000696901.1:c.-468G>A | ENSP00000512962.1:n.-468G>A | |
| ENST00000307851.8:c.-468G>A | ENSP00000312002.4:n.-468G>A | |
| ENST00000524219.1:c.-293-2489G>A | ENSP00000430328.1:n.-293-2489G>A |