Linked Data
ClinVar Variation Id:
1138042
ClinVar RCV Id:
RCV001474280
dbSNP Id:
rs1792881897
gnomAD v4:
7-92518049-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518049A>G , CM000669.2:g.92518049A>G | GRCh38 |
| NC_000007.13:g.92147363A>G , CM000669.1:g.92147363A>G | GRCh37 |
| NC_000007.12:g.91985299A>G | NCBI36 |
| NG_008341.1:g.15483T>C | |
| NG_008341.2:g.15483T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.473-7T>C MANE Select | ENSP00000248633.4:n.473-7T>C | |
| ENST00000248633.8:c.473-7T>C | ENSP00000248633.4:n.473-7T>C | |
| ENST00000428214.5:c.473-7T>C | ENSP00000394413.1:n.473-7T>C | |
| ENST00000438045.5:c.273+4053T>C | ENSP00000410438.1:n.273+4053T>C | |
| ENST00000484913.5:n.512-7T>C | ||
| NM_000466.2:c.473-7T>C | NP_000457.1:n.473-7T>C | |
| NM_001282677.1:c.473-7T>C | NP_001269606.1:n.473-7T>C | |
| NM_001282678.1:c.-152-7T>C | NP_001269607.1:n.-152-7T>C | |
| XR_242246.3:n.569-7T>C | ||
| XR_242246.5:n.520-7T>C | ||
| NM_000466.3:c.473-7T>C MANE Select | NP_000457.1:n.473-7T>C | |
| NM_001282677.2:c.473-7T>C | NP_001269606.1:n.473-7T>C | |
| NM_001282678.2:c.-152-7T>C | NP_001269607.1:n.-152-7T>C |