Linked Data
ClinVar Variation Id:
371743
dbSNP Id:
rs1057517500
gnomAD v2:
7-92147571-T-C
gnomAD v4:
7-92518257-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518257T>C , CM000669.2:g.92518257T>C | GRCh38 |
| NC_000007.13:g.92147571T>C , CM000669.1:g.92147571T>C | GRCh37 |
| NC_000007.12:g.91985507T>C | NCBI36 |
| NG_008341.1:g.15275A>G | |
| NG_008341.2:g.15275A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.358-2A>G MANE Select | ENSP00000248633.4:n.358-2A>G | |
| ENST00000248633.8:c.358-2A>G | ENSP00000248633.4:n.358-2A>G | |
| ENST00000428214.5:c.358-2A>G | ENSP00000394413.1:n.358-2A>G | |
| ENST00000438045.5:c.273+3845A>G | ENSP00000410438.1:n.273+3845A>G | |
| ENST00000484913.5:n.397-2A>G | ||
| NM_000466.2:c.358-2A>G | NP_000457.1:n.358-2A>G | |
| NM_001282677.1:c.358-2A>G | NP_001269606.1:n.358-2A>G | |
| NM_001282678.1:c.-267-2A>G | NP_001269607.1:n.-267-2A>G | |
| XR_242246.3:n.454-2A>G | ||
| XR_242246.5:n.405-2A>G | ||
| NM_000466.3:c.358-2A>G MANE Select | NP_000457.1:n.358-2A>G | |
| NM_001282677.2:c.358-2A>G | NP_001269606.1:n.358-2A>G | |
| NM_001282678.2:c.-267-2A>G | NP_001269607.1:n.-267-2A>G |