Linked Data
dbSNP Id:
rs1388899059
gnomAD v2:
13-50842248-A-C
gnomAD v3:
13-50268112-A-C
gnomAD v4:
13-50268112-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50268112A>C , CM000675.2:g.50268112A>C | GRCh38 |
| NC_000013.10:g.50842248A>C , CM000675.1:g.50842248A>C | GRCh37 |
| NC_000013.9:g.49740249A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461527.6:n.441-6820A>C | ||
| ENST00000463474.6:n.441-70564A>C | ||
| ENST00000467721.5:n.441-122086A>C | ||
| ENST00000468168.5:n.441-122086A>C | ||
| ENST00000468522.5:n.441-146977A>C | ||
| ENST00000473075.2:n.105+19734A>C | ||
| ENST00000475913.5:n.191+82042A>C | ||
| ENST00000476738.5:n.388-146977A>C | ||
| ENST00000483444.5:n.97+43735A>C | ||
| ENST00000484529.5:n.192-6820A>C | ||
| ENST00000485007.5:n.191+82042A>C | ||
| ENST00000486895.5:n.388-122086A>C | ||
| ENST00000490577.5:n.1637+110036A>C | ||
| ENST00000491341.5:n.441-122086A>C | ||
| ENST00000491615.5:n.441-122086A>C | ||
| NR_109974.1:n.443-122086A>C |