gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30729828G>T , CM000675.2:g.30729828G>T | GRCh38 |
| NC_000013.10:g.31303965G>T , CM000675.1:g.31303965G>T | GRCh37 |
| NC_000013.9:g.30201965G>T | NCBI36 |
| NG_011963.2:g.21351G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617770.4:c.117-5723G>T | ENSP00000479870.1:n.117-5723G>T | |
| NM_001204406.1:c.117-5723G>T | NP_001191335.1:n.117-5723G>T | |
| NM_001204406.2:c.117-5723G>T | NP_001191335.1:n.117-5723G>T |