Linked Data
dbSNP Id:
rs180818396
gnomAD v2:
5-131755528-C-T
gnomAD v3:
5-132419836-C-T
gnomAD v4:
5-132419836-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132419836C>T , CM000667.2:g.132419836C>T | GRCh38 |
| NC_000005.9:g.131755528C>T , CM000667.1:g.131755528C>T | GRCh37 |
| NC_000005.8:g.131783427C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638452.2:c.-313C>T | ENSP00000492349.2:n.-313C>T | |
| ENST00000638504.1:n.102C>T | ||
| ENST00000638568.2:c.-455C>T | ENSP00000491158.2:n.-455C>T | |
| ENST00000639899.1:n.145C>T | ||
| ENST00000337752.6:c.-57C>T (CARINH) | ENSP00000338228.2:n.-57C>T | |
| ENST00000378947.7:c.-57C>T (CARINH) | ENSP00000368230.3:n.-57C>T | |
| ENST00000378953.8:c.-57C>T (CARINH) | ENSP00000368236.4:n.-57C>T | |
| ENST00000407797.5:c.-57C>T (CARINH) | ENSP00000385513.1:n.-57C>T | |
| ENST00000461203.5:n.75C>T (CARINH) | ||
| NR_045116.1:n.283C>T (CARINH) | ||
| NM_001207001.2:c.-57C>T (CARINH) | NP_001193930.1:n.-57C>T | |
| XR_948788.3:n.894-87G>A (LINC02863) | ||
| NR_161242.1:n.127C>T (CARINH) |