Linked Data
ClinVar Variation Id:
1620801
ClinVar RCV Id:
RCV002099283
dbSNP Id:
rs781226887
ExAC:
10:75867007 G / A
gnomAD v2:
10-75867007-G-A
gnomAD v4:
10-74107249-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74107249G>A , CM000672.2:g.74107249G>A | GRCh38 |
| NC_000010.10:g.75867007G>A , CM000672.1:g.75867007G>A | GRCh37 |
| NC_000010.9:g.75537013G>A | NCBI36 |
| NG_008868.1:g.114136G>A , LRG_383:g.114136G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.2454G>A MANE Select | ENSP00000211998.5:p.Leu818= | |
| ENST00000211998.8:c.2454G>A | ENSP00000211998.4:p.Leu818= | |
| ENST00000372755.7:c.2454G>A | ENSP00000361841.3:p.Leu818= | |
| ENST00000436396.1:c.1470G>A | ENSP00000415489.1:p.Leu490= | |
| ENST00000472585.1:n.446G>A | ||
| ENST00000623461.3:n.5257G>A | ||
| ENST00000624354.3:c.*2209G>A | ENSP00000485551.1:n.*2209G>A | |
| NM_003373.3:c.2454G>A | NP_003364.1:p.Leu818= | |
| NM_014000.2:c.2454G>A , LRG_383t1:c.2454G>A | NP_054706.1:p.Leu818= | |
| XM_005270142.1:c.2457G>A | XP_005270199.1:p.Leu819= | |
| XM_005270143.1:c.2457G>A | XP_005270200.1:p.Leu819= | |
| NM_003373.4:c.2454G>A | NP_003364.1:p.Leu818= | |
| NM_014000.3:c.2454G>A MANE Select | NP_054706.1:p.Leu818= |