Linked Data
ClinVar Variation Id:
2014844
ClinVar RCV Id:
RCV002861676
dbSNP Id:
rs750251379
ExAC:
8:38002741 T / C
gnomAD v2:
8-38002741-T-C
gnomAD v4:
8-38145223-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145223T>C , CM000670.2:g.38145223T>C | GRCh38 |
| NC_000008.10:g.38002741T>C , CM000670.1:g.38002741T>C | GRCh37 |
| NC_000008.9:g.38121898T>C | NCBI36 |
| NG_011827.1:g.10860A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.743A>G MANE Select | ENSP00000276449.3:p.Lys248Arg | |
| ENST00000276449.8:c.743A>G | ENSP00000276449.3:p.Lys248Arg | |
| ENST00000520114.1:n.1877A>G | ||
| ENST00000522050.1:c.586+740A>G | ||
| NM_000349.2:c.743A>G | NP_000340.2:p.Lys248Arg | |
| XM_006716392.1:c.650+740A>G | XP_006716455.1:n.650+740A>G | |
| NM_000349.3:c.743A>G MANE Select | NP_000340.2:p.Lys248Arg |