Linked Data
ClinVar Variation Id:
21689
dbSNP Id:
rs80338925
ExAC:
5:148407326 C / T
gnomAD v2:
5-148407326-C-T
gnomAD v4:
5-149027763-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149027763C>T , CM000667.2:g.149027763C>T | GRCh38 |
| NC_000005.9:g.148407326C>T , CM000667.1:g.148407326C>T | GRCh37 |
| NC_000005.8:g.148387519C>T | NCBI36 |
| NG_007947.2:g.40412G>A , LRG_269:g.40412G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.1865G>A | ||
| ENST00000515425.6:c.1969G>A MANE Select | ENSP00000423660.1:p.Glu657Lys | |
| ENST00000675793.1:c.*1253G>A | ENSP00000502039.1:n.*1253G>A | |
| ENST00000676056.1:c.*1479G>A | ENSP00000501827.1:n.*1479G>A | |
| ENST00000323829.9:c.*1357G>A | ENSP00000313025.5:n.*1357G>A | |
| ENST00000504517.5:c.1499G>A | ENSP00000421779.1:n.1499G>A | |
| ENST00000504690.5:c.1969G>A | ENSP00000425627.1:p.Glu657Lys | |
| ENST00000510779.1:c.1019G>A | ||
| ENST00000511307.5:c.*1749G>A | ENSP00000421420.1:n.*1749G>A | |
| ENST00000512049.5:c.1948G>A | ENSP00000421860.1:p.Glu650Lys | |
| ENST00000513604.5:c.*1357G>A | ENSP00000423111.1:n.*1357G>A | |
| ENST00000515425.5:c.1969G>A | ENSP00000423660.1:p.Glu657Lys | |
| NM_024577.3:c.1969G>A , LRG_269t1:c.1969G>A | NP_078853.2:p.Glu657Lys | |
| NM_024577.4:c.1969G>A MANE Select | NP_078853.2:p.Glu657Lys |