Linked Data
ClinVar Variation Id:
1993742
ClinVar RCV Id:
RCV002806329
dbSNP Id:
rs758276598
ExAC:
2:29293830 T / G
gnomAD v2:
2-29293830-T-G
gnomAD v3:
2-29070964-T-G
gnomAD v4:
2-29070964-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29070964T>G , CM000664.2:g.29070964T>G | GRCh38 |
| NC_000002.11:g.29293830T>G , CM000664.1:g.29293830T>G | GRCh37 |
| NC_000002.10:g.29147334T>G | NCBI36 |
| NG_021427.1:g.8298A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3298A>C MANE Select | ENSP00000332809.4:p.Lys1100Gln | |
| ENST00000331664.5:c.3298A>C | ENSP00000332809.4:p.Lys1100Gln | |
| NM_001029883.2:c.3298A>C | NP_001025054.1:p.Lys1100Gln | |
| XM_011532826.1:c.3298A>C | XP_011531128.1:p.Lys1100Gln | |
| XR_939901.1:n.185+1797T>G | ||
| XR_939902.1:n.173+1809T>G | ||
| NM_001029883.3:c.3298A>C MANE Select | NP_001025054.1:p.Lys1100Gln |