Linked Data
dbSNP Id:
rs369827153
ExAC:
5:131755549 G / A
gnomAD v2:
5-131755549-G-A
gnomAD v3:
5-132419857-G-A
gnomAD v4:
5-132419857-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132419857G>A , CM000667.2:g.132419857G>A | GRCh38 |
| NC_000005.9:g.131755549G>A , CM000667.1:g.131755549G>A | GRCh37 |
| NC_000005.8:g.131783448G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638452.2:c.-292G>A | ENSP00000492349.2:n.-292G>A | |
| ENST00000638504.1:n.123G>A | ||
| ENST00000638568.2:c.-434G>A | ENSP00000491158.2:n.-434G>A | |
| ENST00000639899.1:n.166G>A | ||
| ENST00000337752.6:c.-36G>A (CARINH) | ENSP00000338228.2:n.-36G>A | |
| ENST00000378947.7:c.-36G>A (CARINH) | ENSP00000368230.3:n.-36G>A | |
| ENST00000378953.8:c.-36G>A (CARINH) | ENSP00000368236.4:n.-36G>A | |
| ENST00000407797.5:c.-36G>A (CARINH) | ENSP00000385513.1:n.-36G>A | |
| ENST00000461203.5:n.96G>A (CARINH) | ||
| NR_045116.1:n.304G>A (CARINH) | ||
| NM_001207001.2:c.-36G>A (CARINH) | NP_001193930.1:n.-36G>A | |
| XR_948788.3:n.894-108C>T (LINC02863) | ||
| NR_161242.1:n.148G>A (CARINH) |