Linked Data
ClinVar Variation Id:
2812320
ClinVar RCV Id:
RCV003685352
gnomAD v4:
X-47627584-T-C
COSMIC:
COSM6196195
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47627584T>C , CM000685.2:g.47627584T>C | GRCh38 |
| NC_000023.10:g.47486983T>C , CM000685.1:g.47486983T>C | GRCh37 |
| NC_000023.9:g.47371927T>C | NCBI36 |
| NG_009893.1:g.7722A>G , LRG_129:g.7722A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396992.8:c.461A>G MANE Select | ENSP00000380189.3:p.Lys154Arg | |
| ENST00000640573.1:n.699A>G | ||
| ENST00000247153.7:c.461A>G | ENSP00000247153.3:p.Lys154Arg | |
| ENST00000377005.6:c.461A>G | ENSP00000366204.2:p.Lys154Arg | |
| ENST00000396992.7:c.461A>G | ENSP00000380189.3:p.Lys154Arg | |
| ENST00000469388.1:c.56A>G | ENSP00000418258.1:p.Lys19Arg | |
| ENST00000485991.5:n.1758A>G | ||
| NM_001145252.1:c.461A>G | NP_001138724.1:p.Lys154Arg | |
| NM_002621.2:c.461A>G , LRG_129t1:c.461A>G | NP_002612.1:p.Lys154Arg | |
| XM_017029575.1:c.56A>G | XP_016885064.1:p.Lys19Arg | |
| NM_001145252.3:c.461A>G MANE Select | NP_001138724.1:p.Lys154Arg |