Linked Data
ClinVar Variation Id:
2165843
ClinVar RCV Id:
RCV003090187
dbSNP Id:
rs757657345
gnomAD v2:
17-7919110-G-A
gnomAD v3:
17-8015792-G-A
gnomAD v4:
17-8015792-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015792G>A , CM000679.2:g.8015792G>A | GRCh38 |
| NC_000017.10:g.7919110G>A , CM000679.1:g.7919110G>A | GRCh37 |
| NC_000017.9:g.7859835G>A | NCBI36 |
| NG_009092.1:g.18123G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2994G>A MANE Select | ENSP00000254854.4:p.Leu998= | |
| ENST00000254854.4:c.2994G>A | ENSP00000254854.4:p.Leu998= | |
| NM_000180.3:c.2994G>A | NP_000171.1:p.Leu998= | |
| XM_011523816.1:c.2994G>A | XP_011522118.1:p.Leu998= | |
| NM_000180.4:c.2994G>A MANE Select | NP_000171.1:p.Leu998= |