Linked Data
ClinVar Variation Id:
1944797
ClinVar RCV Id:
RCV002663246
dbSNP Id:
rs199568181
ExAC:
1:203681108 A / G
gnomAD v2:
1-203681108-A-G
gnomAD v3:
1-203711980-A-G
gnomAD v4:
1-203711980-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203711980A>G , CM000663.2:g.203711980A>G | GRCh38 |
| NC_000001.10:g.203681108A>G , CM000663.1:g.203681108A>G | GRCh37 |
| NC_000001.9:g.201947731A>G | NCBI36 |
| NG_029589.1:g.90194A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341360.7:c.2052A>G | ENSP00000340930.2:p.Lys684= | |
| ENST00000705901.1:c.2016A>G | ENSP00000516177.1:p.Lys672= | |
| ENST00000357681.10:c.2052A>G MANE Select | ENSP00000350310.5:p.Lys684= | |
| ENST00000341360.6:c.2052A>G | ENSP00000340930.2:p.Lys684= | |
| ENST00000357681.9:c.2052A>G | ENSP00000350310.5:p.Lys684= | |
| ENST00000367218.7:c.2052A>G | ENSP00000356187.3:p.Lys684= | |
| NM_001001396.2:c.2052A>G | NP_001001396.1:p.Lys684= | |
| NM_001684.4:c.2052A>G | NP_001675.3:p.Lys684= | |
| NM_001365783.1:c.2052A>G | NP_001352712.1:p.Lys684= | |
| NM_001365784.1:c.2052A>G | NP_001352713.1:p.Lys684= | |
| NM_001365783.2:c.2052A>G | NP_001352712.1:p.Lys684= | |
| NM_001684.5:c.2052A>G MANE Select | NP_001675.3:p.Lys684= | |
| NM_001001396.3:c.2052A>G | NP_001001396.1:p.Lys684= | |
| NM_001365784.2:c.2052A>G | NP_001352713.1:p.Lys684= |