Linked Data
ClinVar Variation Id:
1909339
ClinVar RCV Id:
RCV002587356
dbSNP Id:
rs1223935059
gnomAD v2:
5-148406223-C-T
gnomAD v3:
5-149026660-C-T
gnomAD v4:
5-149026660-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149026660C>T , CM000667.2:g.149026660C>T | GRCh38 |
| NC_000005.9:g.148406223C>T , CM000667.1:g.148406223C>T | GRCh37 |
| NC_000005.8:g.148386416C>T | NCBI36 |
| NG_007947.2:g.41515G>A , LRG_269:g.41515G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.2861G>A | ||
| ENST00000515425.6:c.2965G>A MANE Select | ENSP00000423660.1:p.Ala989Thr | |
| ENST00000675793.1:c.*2249G>A | ENSP00000502039.1:n.*2249G>A | |
| ENST00000676056.1:c.*2475G>A | ENSP00000501827.1:n.*2475G>A | |
| ENST00000323829.9:c.*2353G>A | ENSP00000313025.5:n.*2353G>A | |
| ENST00000504517.5:c.2495G>A | ENSP00000421779.1:n.2495G>A | |
| ENST00000504690.5:c.2965G>A | ENSP00000425627.1:p.Ala989Thr | |
| ENST00000510779.1:c.2015G>A | ||
| ENST00000511307.5:c.*2852G>A | ENSP00000421420.1:n.*2852G>A | |
| ENST00000512049.5:c.2944G>A | ENSP00000421860.1:p.Ala982Thr | |
| ENST00000513604.5:c.*2460G>A | ENSP00000423111.1:n.*2460G>A | |
| ENST00000515425.5:c.2965G>A | ENSP00000423660.1:p.Ala989Thr | |
| NM_024577.3:c.2965G>A , LRG_269t1:c.2965G>A | NP_078853.2:p.Ala989Thr | |
| NM_024577.4:c.2965G>A MANE Select | NP_078853.2:p.Ala989Thr |