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