Linked Data
ClinVar Variation Id:
699074
ClinVar RCV Id:
RCV000866758
dbSNP Id:
rs1562719788
gnomAD v4:
7-5529296-G-A
MyVariant Identifiers:
chr7:g.5568927G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5529296G>A , CM000669.2:g.5529296G>A | GRCh38 |
| NC_000007.13:g.5568927G>A , CM000669.1:g.5568927G>A | GRCh37 |
| NC_000007.12:g.5535453G>A | NCBI36 |
| NG_007992.1:g.6306C>T , LRG_132:g.6306C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417101.2:c.228C>T | ENSP00000399487.2:p.Val76= | |
| ENST00000432588.6:c.228C>T | ENSP00000407473.2:p.Val76= | |
| ENST00000473257.3:c.99C>T | ENSP00000501773.1:p.Val33= | |
| ENST00000477812.2:n.435C>T | ||
| ENST00000484841.6:n.382C>T | ||
| ENST00000493945.6:c.228C>T | ENSP00000494269.1:p.Val76= | |
| ENST00000642480.2:c.228C>T | ENSP00000495995.2:p.Val76= | |
| ENST00000645025.1:n.311C>T | ||
| ENST00000645576.1:c.228C>T | ENSP00000496101.1:p.Val76= | |
| ENST00000646664.1:c.228C>T MANE Select | ENSP00000494750.1:p.Val76= | |
| ENST00000647275.1:c.-3-577C>T | ENSP00000494185.1:n.-3-577C>T | |
| ENST00000674681.1:c.228C>T | ENSP00000502821.1:p.Val76= | |
| ENST00000675515.1:c.228C>T | ENSP00000501862.1:p.Val76= | |
| ENST00000676189.1:c.228C>T | ENSP00000502538.1:p.Val76= | |
| ENST00000676319.1:c.87+275C>T | ENSP00000502193.1:n.87+275C>T | |
| ENST00000676397.1:c.228C>T | ENSP00000502286.1:p.Val76= | |
| ENST00000331789.9:c.228C>T | ENSP00000349960.4:p.Val76= | |
| ENST00000414620.1:c.228C>T | ENSP00000401032.1:p.Val76= | |
| ENST00000417101.1:c.237C>T | ENSP00000399487.1:p.Val79= | |
| ENST00000425660.5:c.228C>T | ENSP00000409264.1:p.Val76= | |
| ENST00000432588.5:c.228C>T | ENSP00000407473.1:p.Val76= | |
| ENST00000443528.5:c.228C>T | ENSP00000393951.1:p.Val76= | |
| ENST00000462494.5:n.312C>T | ||
| ENST00000473257.1:n.82-577C>T | ||
| ENST00000477812.1:n.435C>T | ||
| ENST00000480301.1:n.428C>T | ||
| ENST00000484841.5:n.383C>T | ||
| ENST00000493945.5:n.234C>T | ||
| NM_001101.3:c.228C>T , LRG_132t1:c.228C>T | NP_001092.1:p.Val76= | |
| NM_001101.4:c.228C>T | NP_001092.1:p.Val76= | |
| NM_001101.5:c.228C>T MANE Select | NP_001092.1:p.Val76= |