Linked Data
ClinVar Variation Id:
1587759
ClinVar RCV Id:
RCV002103526
dbSNP Id:
rs1420813407
gnomAD v2:
2-203420881-A-G
gnomAD v3:
2-202556158-A-G
gnomAD v4:
2-202556158-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202556158A>G , CM000664.2:g.202556158A>G | GRCh38 |
| NC_000002.11:g.203420881A>G , CM000664.1:g.203420881A>G | GRCh37 |
| NC_000002.10:g.203129126A>G | NCBI36 |
| NG_009363.1:g.184832A>G , LRG_712:g.184832A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.2493A>G MANE Select | ENSP00000363708.4:p.Leu831= | |
| ENST00000638587.1:c.2424A>G | ENSP00000491062.1:n.2424A>G | |
| ENST00000374574.2:c.1586+3270A>G | ENSP00000363702.2:n.1586+3270A>G | |
| ENST00000374580.8:c.2493A>G | ENSP00000363708.4:p.Leu831= | |
| NM_001204.6:c.2493A>G , LRG_712t1:c.2493A>G | NP_001195.2:p.Leu831= | |
| XM_011511687.1:c.2493A>G | XP_011509989.1:p.Leu831= | |
| XM_011511688.1:c.1586+3270A>G | XP_011509990.1:n.1586+3270A>G | |
| NM_001204.7:c.2493A>G MANE Select | NP_001195.2:p.Leu831= |