dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.22431320A>G , CM000681.2:g.22431320A>G | GRCh38 |
| NC_000019.9:g.22614122A>G , CM000681.1:g.22614122A>G | GRCh37 |
| NC_000019.8:g.22405962A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593802.1:c.316-27808T>C | ENSP00000472301.1:n.316-27808T>C |