dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99321852A>T , CM000666.2:g.99321852A>T | GRCh38 |
| NC_000004.11:g.100243009A>T , CM000666.1:g.100243009A>T | GRCh37 |
| NC_000004.10:g.100462032A>T | NCBI36 |
| NG_011435.1:g.4564T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639454.1:c.19-2966T>A | ENSP00000491622.1:n.19-2966T>A |