dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70572684T>G , CM000672.2:g.70572684T>G | GRCh38 |
| NC_000010.10:g.72332440T>G , CM000672.1:g.72332440T>G | GRCh37 |
| NC_000010.9:g.72002446T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697571.1:c.2418+8165T>G | ENSP00000513342.1:n.2418+8165T>G | |
| ENST00000697572.1:c.2250+8165T>G | ENSP00000513343.1:n.2250+8165T>G | |
| ENST00000697573.1:c.2262+25238T>G | ENSP00000513344.1:n.2262+25238T>G | |
| ENST00000697577.1:n.2722+8165T>G | ||
| ENST00000697578.1:n.2566+25238T>G |