Linked Data
ClinVar Variation Id:
16446
dbSNP Id:
rs137854472
ExAC:
15:48780645 T / C
gnomAD v2:
15-48780645-T-C
gnomAD v4:
15-48488448-T-C
PubMed:
PMID:9101298
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48488448T>C , CM000677.2:g.48488448T>C | GRCh38 |
| NC_000015.9:g.48780645T>C , CM000677.1:g.48780645T>C | GRCh37 |
| NC_000015.8:g.46567937T>C | NCBI36 |
| NG_008805.2:g.162341A>G , LRG_778:g.162341A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.3128A>G | ENSP00000453958.2:p.Lys1043Arg | |
| ENST00000674301.2:c.3128A>G | ENSP00000501333.2:p.Lys1043Arg | |
| ENST00000684448.1:n.1802A>G | ||
| ENST00000316623.10:c.3128A>G MANE Select | ENSP00000325527.5:p.Lys1043Arg | |
| ENST00000316623.9:c.3128A>G | ENSP00000325527.5:p.Lys1043Arg | |
| ENST00000537463.6:c.637-13798A>G | ENSP00000440294.2:n.637-13798A>G | |
| NM_000138.4:c.3128A>G , LRG_778t1:c.3128A>G | NP_000129.3:p.Lys1043Arg | |
| NM_000138.5:c.3128A>G MANE Select | NP_000129.3:p.Lys1043Arg |