Linked Data
ClinVar Variation Id:
1790865
ClinVar RCV Id:
RCV002450321
dbSNP Id:
rs1293892400
gnomAD v2:
11-116703540-G-A
gnomAD v4:
11-116832824-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832824G>A , CM000673.2:g.116832824G>A | GRCh38 |
| NC_000011.9:g.116703540G>A , CM000673.1:g.116703540G>A | GRCh37 |
| NC_000011.8:g.116208750G>A | NCBI36 |
| NG_008949.1:g.7917G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227667.8:c.240G>A MANE Select | ENSP00000227667.2:p.Lys80= | |
| ENST00000227667.7:c.240G>A | ENSP00000227667.2:p.Lys80= | |
| ENST00000375345.3:c.294G>A | ENSP00000364494.1:p.Lys98= | |
| ENST00000630701.1:c.294G>A | ENSP00000486182.1:p.Lys98= | |
| NM_000040.1:c.240G>A | NP_000031.1:p.Lys80= | |
| NM_000040.2:c.240G>A | NP_000031.1:p.Lys80= | |
| NM_000040.3:c.240G>A MANE Select | NP_000031.1:p.Lys80= |