dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27165663A>C , CM000669.2:g.27165663A>C | GRCh38 |
| NC_000007.13:g.27205282A>C , CM000669.1:g.27205282A>C | GRCh37 |
| NC_000007.12:g.27171807A>C | NCBI36 |
| NG_029923.1:g.4868T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465941.1:n.480-1822T>G | ||
| ENST00000470747.4:c.11-696T>G | ENSP00000421799.3:n.11-696T>G | |
| ENST00000487384.5:n.69-696T>G | ||
| ENST00000489695.1:n.272-696T>G | ||
| ENST00000497089.1:n.152-1822T>G | ||
| NR_037940.1:n.617-696T>G |