Linked Data
ClinVar Variation Id:
1933061
ClinVar RCV Id:
RCV002635750
dbSNP Id:
rs376327160
gnomAD v2:
16-1411868-C-G
gnomAD v3:
16-1361867-C-G
gnomAD v4:
16-1361867-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361867C>G , CM000678.2:g.1361867C>G | GRCh38 |
| NC_000016.9:g.1411868C>G , CM000678.1:g.1411868C>G | GRCh37 |
| NC_000016.8:g.1351869C>G | NCBI36 |
| NG_016985.1:g.14969C>G | |
| NG_033129.1:g.57838G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.333-5C>G | ||
| ENST00000529110.2:c.318-5C>G | ENSP00000435349.2:n.318-5C>G | |
| ENST00000529957.6:n.292-5C>G | ||
| ENST00000683366.1:c.179-5C>G | ENSP00000507283.1:n.179-5C>G | |
| ENST00000683887.1:c.282-5C>G | ENSP00000506886.1:n.282-5C>G | |
| ENST00000684100.1:n.223C>G | ||
| ENST00000684126.1:n.292-5C>G | ||
| ENST00000684688.1:n.859-5C>G | ||
| ENST00000204679.9:c.234-5C>G MANE Select | ENSP00000204679.4:n.234-5C>G | |
| ENST00000204679.8:c.234-5C>G | ENSP00000204679.4:n.234-5C>G | |
| ENST00000526820.5:c.*136-5C>G | ENSP00000434413.1:n.*136-5C>G | |
| ENST00000527076.1:n.1245C>G | ||
| ENST00000527168.5:n.270-5C>G | ||
| ENST00000529110.1:c.301-5C>G | ||
| ENST00000529957.5:n.333-5C>G | ||
| NM_032520.4:c.234-5C>G | NP_115909.1:n.234-5C>G | |
| XM_017023782.1:c.282-5C>G | XP_016879271.1:n.282-5C>G | |
| XM_017023783.1:c.-127-5C>G | XP_016879272.1:n.-127-5C>G | |
| NM_032520.5:c.234-5C>G MANE Select | NP_115909.1:n.234-5C>G |