Linked Data
ClinVar Variation Id:
1374265
ClinVar RCV Id:
RCV002552134
dbSNP Id:
rs1163471411
gnomAD v3:
1-115768414-T-C
gnomAD v4:
1-115768414-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768414T>C , CM000663.2:g.115768414T>C | GRCh38 |
| NC_000001.10:g.116311035T>C , CM000663.1:g.116311035T>C | GRCh37 |
| NC_000001.9:g.116112558T>C | NCBI36 |
| NG_008802.1:g.5392A>G , LRG_404:g.5392A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-149A>G | ENSP00000518226.1:n.-149A>G | |
| ENST00000261448.6:c.128A>G MANE Select | ENSP00000261448.5:p.Lys43Arg | |
| ENST00000261448.5:c.128A>G | ENSP00000261448.5:p.Lys43Arg | |
| NM_001232.3:c.128A>G , LRG_404t1:c.128A>G | NP_001223.2:p.Lys43Arg | |
| NM_001232.4:c.128A>G MANE Select | NP_001223.2:p.Lys43Arg |