dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201287768T>G , CM000664.2:g.201287768T>G | GRCh38 |
| NC_000002.11:g.202152491T>G , CM000664.1:g.202152491T>G | GRCh37 |
| NC_000002.10:g.201860736T>G | NCBI36 |
| NG_007497.1:g.59311T>G , LRG_34:g.59311T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696069.1:c.1259+2451T>G | ENSP00000512371.1:n.1259+2451T>G |