Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157109287G>T , CM000667.2:g.157109287G>T | GRCh38 |
| NC_000005.9:g.156536298G>T , CM000667.1:g.156536298G>T | GRCh37 |
| NC_000005.8:g.156468876G>T | NCBI36 |
| NG_030444.1:g.4951C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524219.2:c.-293-2325C>A | ENSP00000430328.2:n.-293-2325C>A | |
| ENST00000696899.1:c.-264-40C>A | ENSP00000512960.1:n.-264-40C>A | |
| ENST00000696901.1:c.-304C>A | ENSP00000512962.1:n.-304C>A | |
| ENST00000307851.8:c.-304C>A | ENSP00000312002.4:n.-304C>A | |
| ENST00000524219.1:c.-293-2325C>A | ENSP00000430328.1:n.-293-2325C>A |