Linked Data
ClinVar Variation Id:
1595683
ClinVar RCV Id:
RCV002115593
dbSNP Id:
rs747033841
ExAC:
7:92151572 G / C
gnomAD v2:
7-92151572-G-C
gnomAD v4:
7-92522258-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92522258G>C , CM000669.2:g.92522258G>C | GRCh38 |
| NC_000007.13:g.92151572G>C , CM000669.1:g.92151572G>C | GRCh37 |
| NC_000007.12:g.91989508G>C | NCBI36 |
| NG_008341.1:g.11274C>G | |
| NG_008341.2:g.11274C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.130-13C>G MANE Select | ENSP00000248633.4:n.130-13C>G | |
| ENST00000248633.8:c.130-13C>G | ENSP00000248633.4:n.130-13C>G | |
| ENST00000428214.5:c.130-13C>G | ENSP00000394413.1:n.130-13C>G | |
| ENST00000438045.5:c.130-13C>G | ENSP00000410438.1:n.130-13C>G | |
| ENST00000484913.5:n.134-13C>G | ||
| NM_000466.2:c.130-13C>G | NP_000457.1:n.130-13C>G | |
| NM_001282677.1:c.130-13C>G | NP_001269606.1:n.130-13C>G | |
| NM_001282678.1:c.-530-13C>G | NP_001269607.1:n.-530-13C>G | |
| XR_242246.3:n.226-13C>G | ||
| XR_242246.5:n.177-13C>G | ||
| NM_000466.3:c.130-13C>G MANE Select | NP_000457.1:n.130-13C>G | |
| NM_001282677.2:c.130-13C>G | NP_001269606.1:n.130-13C>G | |
| NM_001282678.2:c.-530-13C>G | NP_001269607.1:n.-530-13C>G |