Linked Data
dbSNP Id:
rs752178561
ExAC:
7:92148424 A / C
gnomAD v2:
7-92148424-A-C
gnomAD v4:
7-92519110-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92519110A>C , CM000669.2:g.92519110A>C | GRCh38 |
| NC_000007.13:g.92148424A>C , CM000669.1:g.92148424A>C | GRCh37 |
| NC_000007.12:g.91986360A>C | NCBI36 |
| NG_008341.1:g.14422T>G | |
| NG_008341.2:g.14422T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.274-32T>G MANE Select | ENSP00000248633.4:n.274-32T>G | |
| ENST00000248633.8:c.274-32T>G | ENSP00000248633.4:n.274-32T>G | |
| ENST00000428214.5:c.274-32T>G | ENSP00000394413.1:n.274-32T>G | |
| ENST00000438045.5:c.273+2992T>G | ENSP00000410438.1:n.273+2992T>G | |
| ENST00000484913.5:n.278-32T>G | ||
| NM_000466.2:c.274-32T>G | NP_000457.1:n.274-32T>G | |
| NM_001282677.1:c.274-32T>G | NP_001269606.1:n.274-32T>G | |
| NM_001282678.1:c.-386-32T>G | NP_001269607.1:n.-386-32T>G | |
| XR_242246.3:n.370-32T>G | ||
| XR_242246.5:n.321-32T>G | ||
| NM_000466.3:c.274-32T>G MANE Select | NP_000457.1:n.274-32T>G | |
| NM_001282677.2:c.274-32T>G | NP_001269606.1:n.274-32T>G | |
| NM_001282678.2:c.-386-32T>G | NP_001269607.1:n.-386-32T>G |