Linked Data
ClinVar Variation Id:
2187807
ClinVar RCV Id:
RCV002623626
dbSNP Id:
rs147154409
ExAC:
10:101953807 G / T
gnomAD v2:
10-101953807-G-T
gnomAD v3:
10-100194050-G-T
gnomAD v4:
10-100194050-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100194050G>T , CM000672.2:g.100194050G>T | GRCh38 |
| NC_000010.10:g.101953807G>T , CM000672.1:g.101953807G>T | GRCh37 |
| NC_000010.9:g.101943797G>T | NCBI36 |
| NG_028023.1:g.40538C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370397.8:c.1908C>A MANE Select | ENSP00000359424.6:p.Asp636Glu | |
| ENST00000370397.7:c.1908C>A | ENSP00000359424.6:p.Asp636Glu | |
| ENST00000588656.1:n.30C>A | ||
| ENST00000590930.5:n.1893C>A | ||
| NM_001278.3:c.1908C>A | NP_001269.3:p.Asp636Glu | |
| XM_011539196.1:c.1908C>A | XP_011537498.1:p.Asp636Glu | |
| XM_011539197.1:c.1908C>A | XP_011537499.1:p.Asp636Glu | |
| XM_011539198.1:c.1908C>A | XP_011537500.1:p.Asp636Glu | |
| XR_945589.1:n.1986C>A | ||
| NM_001278.4:c.1908C>A | NP_001269.3:p.Asp636Glu | |
| NM_001320928.1:c.1908C>A | NP_001307857.1:p.Asp636Glu | |
| XM_017015611.1:c.1908C>A | XP_016871100.1:p.Asp636Glu | |
| XM_017015613.1:c.696C>A | XP_016871102.1:p.Asp232Glu | |
| XR_001747010.1:n.1986C>A | ||
| XR_001747011.1:n.1883C>A | ||
| NM_001278.5:c.1908C>A MANE Select | NP_001269.3:p.Asp636Glu | |
| NM_001320928.2:c.1908C>A | NP_001307857.1:p.Asp636Glu |