gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.77129124G>T , CM000667.2:g.77129124G>T | GRCh38 |
| NC_000005.9:g.76424949G>T , CM000667.1:g.76424949G>T | GRCh37 |
| NC_000005.8:g.76460705G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646262.1:c.-34+10603G>T | ENSP00000493971.1:n.-34+10603G>T | |
| ENST00000646704.1:c.2011+10603G>T | ENSP00000495089.1:n.2011+10603G>T | |
| NR_024398.1:n.442+10603G>T | ||
| XR_948493.1:n.150+696C>A | ||
| XR_948494.1:n.136+696C>A |