Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161847421C>T , CM000667.2:g.161847421C>T | GRCh38 |
| NC_000005.9:g.161274427C>T , CM000667.1:g.161274427C>T | GRCh37 |
| NC_000005.8:g.161207005C>T | NCBI36 |
| NG_011548.1:g.5231C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000638112.1:c.-293C>T | ENSP00000489839.1:n.-293C>T | |
| ENST00000023897.10:c.-248+10C>T | ENSP00000023897.6:n.-248+10C>T | |
| NM_000806.5:c.-248+10C>T | NP_000797.2:n.-248+10C>T | |
| XR_941158.3:n.89+3099G>A |