Linked Data
ClinVar Variation Id:
487613
dbSNP Id:
rs1262533485
gnomAD v2:
6-7580177-G-A
gnomAD v4:
6-7579944-G-A
COSMIC:
COSM5580921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7579944G>A , CM000668.2:g.7579944G>A | GRCh38 |
| NC_000006.11:g.7580177G>A , CM000668.1:g.7580177G>A | GRCh37 |
| NC_000006.10:g.7525176G>A | NCBI36 |
| NG_008803.1:g.43308G>A , LRG_423:g.43308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.3754G>A | ENSP00000518230.1:p.Glu1252Lys | |
| ENST00000379802.8:c.3754G>A MANE Select | ENSP00000369129.3:p.Glu1252Lys | |
| ENST00000379802.7:c.3754G>A | ENSP00000369129.3:p.Glu1252Lys | |
| ENST00000418664.2:c.3582+172G>A | ENSP00000396591.2:n.3582+172G>A | |
| NM_001008844.1:c.3582+172G>A | NP_001008844.1:n.3582+172G>A | |
| NM_004415.2:c.3754G>A , LRG_423t1:c.3754G>A | NP_004406.2:p.Glu1252Lys | |
| XM_011514323.1:c.3754G>A | XP_011512625.1:p.Glu1252Lys | |
| NM_001008844.2:c.3582+172G>A | NP_001008844.1:n.3582+172G>A | |
| NM_001319034.1:c.3754G>A | NP_001305963.1:p.Glu1252Lys | |
| NM_004415.3:c.3754G>A | NP_004406.2:p.Glu1252Lys | |
| NM_004415.4:c.3754G>A MANE Select | NP_004406.2:p.Glu1252Lys | |
| NM_001008844.3:c.3582+172G>A | NP_001008844.1:n.3582+172G>A | |
| NM_001319034.2:c.3754G>A | NP_001305963.1:p.Glu1252Lys |