Linked Data
ClinVar Variation Id:
1132828
ClinVar RCV Id:
RCV001467211
dbSNP Id:
rs1295114817
gnomAD v2:
2-203378515-G-A
gnomAD v4:
2-202513792-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202513792G>A , CM000664.2:g.202513792G>A | GRCh38 |
| NC_000002.11:g.203378515G>A , CM000664.1:g.203378515G>A | GRCh37 |
| NC_000002.10:g.203086760G>A | NCBI36 |
| NG_009363.1:g.142466G>A , LRG_712:g.142466G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.492G>A MANE Select | ENSP00000363708.4:p.Leu164= | |
| ENST00000638587.1:c.423G>A | ENSP00000491062.1:p.Leu141= | |
| ENST00000374574.2:c.492G>A | ENSP00000363702.2:p.Leu164= | |
| ENST00000374580.8:c.492G>A | ENSP00000363708.4:p.Leu164= | |
| NM_001204.6:c.492G>A , LRG_712t1:c.492G>A | NP_001195.2:p.Leu164= | |
| XM_011511687.1:c.492G>A | XP_011509989.1:p.Leu164= | |
| XM_011511688.1:c.492G>A | XP_011509990.1:p.Leu164= | |
| NM_001204.7:c.492G>A MANE Select | NP_001195.2:p.Leu164= |