Linked Data
ClinVar Variation Id:
1564819
ClinVar RCV Id:
RCV002212902
dbSNP Id:
rs375764145
ExAC:
16:1412027 G / A
gnomAD v2:
16-1412027-G-A
gnomAD v3:
16-1362026-G-A
gnomAD v4:
16-1362026-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362026G>A , CM000678.2:g.1362026G>A | GRCh38 |
| NC_000016.9:g.1412027G>A , CM000678.1:g.1412027G>A | GRCh37 |
| NC_000016.8:g.1352028G>A | NCBI36 |
| NG_016985.1:g.15128G>A | |
| NG_033129.1:g.57679C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.417-12G>A | ||
| ENST00000529110.2:c.402-12G>A | ENSP00000435349.2:n.402-12G>A | |
| ENST00000529957.6:n.376-12G>A | ||
| ENST00000683366.1:c.*50-12G>A | ENSP00000507283.1:n.*50-12G>A | |
| ENST00000683887.1:c.366-12G>A | ENSP00000506886.1:n.366-12G>A | |
| ENST00000684100.1:n.312-12G>A | ||
| ENST00000684126.1:n.376-12G>A | ||
| ENST00000684688.1:n.943-12G>A | ||
| ENST00000204679.9:c.318-12G>A MANE Select | ENSP00000204679.4:n.318-12G>A | |
| ENST00000204679.8:c.318-12G>A | ENSP00000204679.4:n.318-12G>A | |
| ENST00000526820.5:c.*220-12G>A | ENSP00000434413.1:n.*220-12G>A | |
| ENST00000527076.1:n.1334-12G>A | ||
| ENST00000527168.5:n.354-12G>A | ||
| ENST00000529110.1:c.385-12G>A | ||
| ENST00000529957.5:n.417-12G>A | ||
| NM_032520.4:c.318-12G>A | NP_115909.1:n.318-12G>A | |
| XM_017023782.1:c.366-12G>A | XP_016879271.1:n.366-12G>A | |
| XM_017023783.1:c.-43-12G>A | XP_016879272.1:n.-43-12G>A | |
| NM_032520.5:c.318-12G>A MANE Select | NP_115909.1:n.318-12G>A |