Linked Data
ClinVar Variation Id:
1541464
ClinVar RCV Id:
RCV002164595
dbSNP Id:
rs749180235
gnomAD v2:
7-92147582-G-C
gnomAD v3:
7-92518268-G-C
gnomAD v4:
7-92518268-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518268G>C , CM000669.2:g.92518268G>C | GRCh38 |
| NC_000007.13:g.92147582G>C , CM000669.1:g.92147582G>C | GRCh37 |
| NC_000007.12:g.91985518G>C | NCBI36 |
| NG_008341.1:g.15264C>G | |
| NG_008341.2:g.15264C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.358-13C>G MANE Select | ENSP00000248633.4:n.358-13C>G | |
| ENST00000248633.8:c.358-13C>G | ENSP00000248633.4:n.358-13C>G | |
| ENST00000428214.5:c.358-13C>G | ENSP00000394413.1:n.358-13C>G | |
| ENST00000438045.5:c.273+3834C>G | ENSP00000410438.1:n.273+3834C>G | |
| ENST00000484913.5:n.397-13C>G | ||
| NM_000466.2:c.358-13C>G | NP_000457.1:n.358-13C>G | |
| NM_001282677.1:c.358-13C>G | NP_001269606.1:n.358-13C>G | |
| NM_001282678.1:c.-267-13C>G | NP_001269607.1:n.-267-13C>G | |
| XR_242246.3:n.454-13C>G | ||
| XR_242246.5:n.405-13C>G | ||
| NM_000466.3:c.358-13C>G MANE Select | NP_000457.1:n.358-13C>G | |
| NM_001282677.2:c.358-13C>G | NP_001269606.1:n.358-13C>G | |
| NM_001282678.2:c.-267-13C>G | NP_001269607.1:n.-267-13C>G |