Linked Data
ClinVar Variation Id:
880650
dbSNP Id:
rs771971250
ExAC:
13:113803770 G / A
gnomAD v2:
13-113803770-G-A
gnomAD v3:
13-113149456-G-A
gnomAD v4:
13-113149456-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149456G>A , CM000675.2:g.113149456G>A | GRCh38 |
| NC_000013.10:g.113803770G>A , CM000675.1:g.113803770G>A | GRCh37 |
| NC_000013.9:g.112851771G>A | NCBI36 |
| NG_009258.1:g.31658G>A , LRG_548:g.31658G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375559.8:c.1406G>A MANE Select | ENSP00000364709.3:p.Arg469Lys | |
| ENST00000375551.7:c.*397G>A | ENSP00000364701.3:n.*397G>A | |
| ENST00000375559.7:c.1406G>A | ENSP00000364709.3:p.Arg469Lys | |
| ENST00000409306.5:c.*397G>A | ENSP00000387092.1:n.*397G>A | |
| NM_000504.3:c.1406G>A , LRG_548t1:c.1406G>A | NP_000495.1:p.Arg469Lys | |
| NM_001312674.1:c.1274G>A | NP_001299603.1:p.Arg425Lys | |
| NM_001312675.1:c.*397G>A | NP_001299604.1:n.*397G>A | |
| NM_000504.4:c.1406G>A MANE Select | NP_000495.1:p.Arg469Lys | |
| NM_001312674.2:c.1274G>A | NP_001299603.1:p.Arg425Lys | |
| NM_001312675.2:c.*397G>A | NP_001299604.1:n.*397G>A |