dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71241014A>T , CM000674.2:g.71241014A>T | GRCh38 |
| NC_000012.11:g.71634794A>T , CM000674.1:g.71634794A>T | GRCh37 |
| NC_000012.10:g.69921061A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393330.6:c.-110+36337T>A | ENSP00000377003.2:n.-110+36337T>A | |
| ENST00000549421.1:n.206+41702T>A |