Linked Data
dbSNP Id:
rs550790780
ExAC:
5:131755657 T / G
gnomAD v2:
5-131755657-T-G
gnomAD v3:
5-132419965-T-G
gnomAD v4:
5-132419965-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132419965T>G , CM000667.2:g.132419965T>G | GRCh38 |
| NC_000005.9:g.131755657T>G , CM000667.1:g.131755657T>G | GRCh37 |
| NC_000005.8:g.131783556T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000638452.2:c.-209+25T>G | ENSP00000492349.2:n.-209+25T>G | |
| ENST00000638504.1:n.206+25T>G | ||
| ENST00000638568.2:c.-351+25T>G | ENSP00000491158.2:n.-351+25T>G | |
| ENST00000639899.1:n.249+25T>G | ||
| ENST00000337752.6:c.48+25T>G (CARINH) | ENSP00000338228.2:n.48+25T>G | |
| ENST00000378947.7:c.48+25T>G (CARINH) | ENSP00000368230.3:n.48+25T>G | |
| ENST00000378953.8:c.48+25T>G (CARINH) | ENSP00000368236.4:n.48+25T>G | |
| ENST00000407797.5:c.48+25T>G (CARINH) | ENSP00000385513.1:n.48+25T>G | |
| ENST00000461203.5:n.179+25T>G (CARINH) | ||
| ENST00000621237.1:c.48+25T>G (CARINH) | ENSP00000481774.1:n.48+25T>G | |
| NR_045116.1:n.387+25T>G (CARINH) | ||
| NM_001207001.2:c.48+25T>G (CARINH) | NP_001193930.1:n.48+25T>G | |
| XR_948788.3:n.894-216A>C (LINC02863) | ||
| NR_161242.1:n.231+25T>G (CARINH) |