Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53545239G>T , CM000668.2:g.53545239G>T | GRCh38 |
| NC_000006.11:g.53410037G>T , CM000668.1:g.53410037G>T | GRCh37 |
| NC_000006.10:g.53517996G>T | NCBI36 |
| NG_012071.1:g.4795C>A | |
| NG_012071.2:g.4891C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000505197.1:c.-10+18878C>A | ENSP00000427403.1:n.-10+18878C>A |
| ENST00000616923.5:c.-10+2817C>A | ENSP00000482756.2:n.-10+2817C>A |