Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157109348C>A , CM000667.2:g.157109348C>A | GRCh38 |
| NC_000005.9:g.156536359C>A , CM000667.1:g.156536359C>A | GRCh37 |
| NC_000005.8:g.156468937C>A | NCBI36 |
| NG_030444.1:g.4890G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524219.2:c.-293-2386G>T | ENSP00000430328.2:n.-293-2386G>T | |
| ENST00000696899.1:c.-264-101G>T | ENSP00000512960.1:n.-264-101G>T | |
| ENST00000696901.1:c.-365G>T | ENSP00000512962.1:n.-365G>T | |
| ENST00000307851.8:c.-365G>T | ENSP00000312002.4:n.-365G>T | |
| ENST00000524219.1:c.-293-2386G>T | ENSP00000430328.1:n.-293-2386G>T |