Linked Data
ClinVar Variation Id:
2871224
ClinVar RCV Id:
RCV003698338
dbSNP Id:
rs765442506
ExAC:
2:88874790 C / T
gnomAD v2:
2-88874790-C-T
gnomAD v3:
2-88575272-C-T
gnomAD v4:
2-88575272-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575272C>T , CM000664.2:g.88575272C>T | GRCh38 |
| NC_000002.11:g.88874790C>T , CM000664.1:g.88874790C>T | GRCh37 |
| NC_000002.10:g.88655905C>T | NCBI36 |
| NG_016424.1:g.57305G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478003.2:n.2039G>A | ||
| ENST00000682276.1:n.1656G>A | ||
| ENST00000682892.1:c.1758G>A | ENSP00000507214.1:p.Gln586= | |
| ENST00000682952.1:n.1850G>A | ||
| ENST00000684455.1:c.1424G>A | ||
| ENST00000684642.1:c.1608G>A | ENSP00000507355.1:p.Gln536= | |
| ENST00000684740.1:n.2389G>A | ||
| ENST00000303236.9:c.2211G>A MANE Select | ENSP00000307235.3:p.Gln737= | |
| ENST00000652099.1:c.2405G>A | ||
| ENST00000652736.1:n.2087G>A | ||
| ENST00000303236.7:c.2211G>A | ENSP00000307235.3:p.Gln737= | |
| ENST00000415570.1:c.1848G>A | ENSP00000412076.1:p.Gln616= | |
| ENST00000419748.5:c.1758G>A | ENSP00000408325.1:p.Gln586= | |
| ENST00000470706.1:n.48+89G>A | ||
| NM_001313915.1:c.1758G>A | NP_001300844.1:p.Gln586= | |
| NM_004836.5:c.2211G>A | NP_004827.4:p.Gln737= | |
| NM_004836.6:c.2211G>A | NP_004827.4:p.Gln737= | |
| NR_110236.1:n.1409C>T | ||
| XM_005264649.3:c.1527G>A | XP_005264706.1:p.Gln509= | |
| XR_939749.1:n.2490G>A | ||
| XM_017005376.2:c.1527G>A | XP_016860865.1:p.Gln509= | |
| NM_004836.7:c.2211G>A MANE Select | NP_004827.4:p.Gln737= | |
| NM_001313915.2:c.1758G>A | NP_001300844.1:p.Gln586= |