dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131572419G>C , CM000668.2:g.131572419G>C | GRCh38 |
| NC_000006.11:g.131893559G>C , CM000668.1:g.131893559G>C | GRCh37 |
| NC_000006.10:g.131935252G>C | NCBI36 |
| NG_007086.2:g.4195G>C | |
| NG_031860.1:g.60805C>G | |
| NG_031860.2:g.60805C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672052.1:n.305-4244G>C | ||
| ENST00000672233.1:c.77-6692G>C | ENSP00000499826.1:n.77-6692G>C | |
| ENST00000673234.1:c.77-4244G>C | ENSP00000499885.1:n.77-4244G>C |