Linked Data
ClinVar Variation Id:
348438
dbSNP Id:
rs746926553
ExAC:
4:1952819 C / T
gnomAD v2:
4-1952819-C-T
gnomAD v3:
4-1951092-C-T
gnomAD v4:
4-1951092-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1951092C>T , CM000666.2:g.1951092C>T | GRCh38 |
| NC_000004.11:g.1952819C>T , CM000666.1:g.1952819C>T | GRCh37 |
| NC_000004.10:g.1922617C>T | NCBI36 |
| NG_009269.1:g.84697C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508803.6:c.1902C>T MANE Select | ENSP00000423972.1:p.Asp634= | |
| ENST00000677559.1:c.1902C>T | ENSP00000504406.1:p.Asp634= | |
| ENST00000312087.10:c.*185C>T | ENSP00000308780.6:n.*185C>T | |
| ENST00000353275.9:c.*52C>T | ENSP00000329167.5:n.*52C>T | |
| ENST00000382891.9:c.1902C>T | ENSP00000372347.5:p.Asp634= | |
| ENST00000382892.6:c.1902C>T | ENSP00000372348.2:p.Asp634= | |
| ENST00000382895.7:c.1902C>T | ENSP00000372351.3:p.Asp634= | |
| ENST00000482415.6:n.519C>T | ||
| ENST00000502425.5:n.48C>T | ||
| ENST00000508803.5:c.1902C>T | ENSP00000423972.1:p.Asp634= | |
| ENST00000511904.1:c.602C>T | ENSP00000424482.1:n.602C>T | |
| ENST00000513726.5:n.181C>T | ||
| ENST00000514329.5:c.139C>T | ||
| NM_001042424.2:c.1902C>T | NP_001035889.1:p.Asp634= | |
| NM_133330.2:c.1902C>T | NP_579877.1:p.Asp634= | |
| NM_133331.2:c.1902C>T | NP_579878.1:p.Asp634= | |
| NM_133335.3:c.1902C>T | NP_579890.1:p.Asp634= | |
| XM_005248001.3:c.1902C>T | XP_005248058.1:p.Asp634= | |
| XM_005248002.1:c.1695C>T | XP_005248059.1:p.Asp565= | |
| XM_006713915.2:c.-442C>T | XP_006713978.1:n.-442C>T | |
| XM_011513557.1:c.1902C>T | XP_011511859.1:p.Asp634= | |
| XM_011513558.1:c.1902C>T | XP_011511860.1:p.Asp634= | |
| XM_005248001.4:c.1902C>T | XP_005248058.1:p.Asp634= | |
| XM_005248002.3:c.1695C>T | XP_005248059.1:p.Asp565= | |
| XM_011513557.2:c.1902C>T | XP_011511859.1:p.Asp634= | |
| XM_017008587.1:c.-318C>T | XP_016864076.1:n.-318C>T | |
| NM_001042424.3:c.1902C>T MANE Select | NP_001035889.1:p.Asp634= | |
| NM_133330.3:c.1902C>T | NP_579877.1:p.Asp634= | |
| NM_133331.3:c.1902C>T | NP_579878.1:p.Asp634= | |
| NM_133335.4:c.1902C>T | NP_579890.1:p.Asp634= |