Linked Data
ClinVar Variation Id:
425817
ClinVar RCV Id:
RCV000488589
dbSNP Id:
rs1085307254
gnomAD v4:
2-202518927-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202518927G>A , CM000664.2:g.202518927G>A | GRCh38 |
| NC_000002.11:g.203383650G>A , CM000664.1:g.203383650G>A | GRCh37 |
| NC_000002.10:g.203091895G>A | NCBI36 |
| NG_009363.1:g.147601G>A , LRG_712:g.147601G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.727G>A MANE Select | ENSP00000363708.4:p.Glu243Lys | |
| ENST00000638587.1:c.658G>A | ENSP00000491062.1:p.Glu220Lys | |
| ENST00000374574.2:c.727G>A | ENSP00000363702.2:p.Glu243Lys | |
| ENST00000374580.8:c.727G>A | ENSP00000363708.4:p.Glu243Lys | |
| NM_001204.6:c.727G>A , LRG_712t1:c.727G>A | NP_001195.2:p.Glu243Lys | |
| XM_011511687.1:c.727G>A | XP_011509989.1:p.Glu243Lys | |
| XM_011511688.1:c.727G>A | XP_011509990.1:p.Glu243Lys | |
| NM_001204.7:c.727G>A MANE Select | NP_001195.2:p.Glu243Lys |