dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131570680A>T , CM000668.2:g.131570680A>T | GRCh38 |
| NC_000006.11:g.131891820A>T , CM000668.1:g.131891820A>T | GRCh37 |
| NC_000006.10:g.131933513A>T | NCBI36 |
| NG_007086.2:g.2456A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672052.1:n.305-5983A>T | ||
| ENST00000672233.1:c.77-8431A>T | ENSP00000499826.1:n.77-8431A>T | |
| ENST00000673234.1:c.77-5983A>T | ENSP00000499885.1:n.77-5983A>T |