Linked Data
ClinVar Variation Id:
2992805
ClinVar RCV Id:
RCV003857916
dbSNP Id:
rs1303929283
gnomAD v2:
11-116661382-T-C
gnomAD v4:
11-116790666-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116790666T>C , CM000673.2:g.116790666T>C | GRCh38 |
| NC_000011.9:g.116661382T>C , CM000673.1:g.116661382T>C | GRCh37 |
| NC_000011.8:g.116166592T>C | NCBI36 |
| NG_015894.1:g.6755A>G | |
| NG_015894.2:g.6755A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227665.9:c.563A>G MANE Select | ENSP00000227665.4:p.Lys188Arg | |
| ENST00000433069.2:c.563A>G | ENSP00000399701.2:p.Lys188Arg | |
| ENST00000673688.1:c.647A>G | ENSP00000501141.1:p.Lys216Arg | |
| ENST00000227665.8:c.563A>G | ENSP00000227665.4:p.Lys188Arg | |
| ENST00000542499.5:c.563A>G | ENSP00000445002.1:p.Lys188Arg | |
| NM_001166598.1:c.563A>G | NP_001160070.1:p.Lys188Arg | |
| NM_052968.4:c.563A>G | NP_443200.2:p.Lys188Arg | |
| NM_001166598.2:c.563A>G | NP_001160070.1:p.Lys188Arg | |
| NM_001371904.1:c.563A>G MANE Select | NP_001358833.1:p.Lys188Arg | |
| NM_052968.5:c.563A>G | NP_443200.2:p.Lys188Arg |