Linked Data
dbSNP Id:
rs768256513
ExAC:
1:24123003 T / C
gnomAD v2:
1-24123003-T-C
gnomAD v4:
1-23796513-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23796513T>C , CM000663.2:g.23796513T>C | GRCh38 |
| NC_000001.10:g.24123003T>C , CM000663.1:g.24123003T>C | GRCh37 |
| NC_000001.9:g.23995590T>C | NCBI36 |
| NG_007068.1:g.9292A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.869A>G MANE Select | ENSP00000483375.1:p.Lys290Arg | |
| ENST00000374497.7:c.869A>G | ENSP00000363621.3:p.Lys290Arg | |
| ENST00000418277.5:c.677A>G | ENSP00000414719.1:p.Lys226Arg | |
| ENST00000429356.5:c.603+184A>G | ENSP00000398585.1:n.603+184A>G | |
| ENST00000456977.5:c.153+184A>G | ENSP00000397045.1:n.153+184A>G | |
| ENST00000459934.5:n.1097A>G | ||
| ENST00000469556.1:n.373A>G | ||
| ENST00000481736.5:n.1273A>G | ||
| ENST00000617979.4:c.869A>G | ENSP00000483375.1:p.Lys290Arg | |
| NM_000403.3:c.869A>G | NP_000394.2:p.Lys290Arg | |
| NM_001008216.1:c.869A>G | NP_001008217.1:p.Lys290Arg | |
| NM_001127621.1:c.869A>G | NP_001121093.1:p.Lys290Arg | |
| NM_001008216.2:c.869A>G MANE Select | NP_001008217.1:p.Lys290Arg | |
| NM_000403.4:c.869A>G | NP_000394.2:p.Lys290Arg | |
| NM_001127621.2:c.869A>G | NP_001121093.1:p.Lys290Arg |