Linked Data
ClinVar Variation Id:
259297
dbSNP Id:
rs760380736
ExAC:
2:238285811 C / T
gnomAD v2:
2-238285811-C-T
gnomAD v3:
2-237377168-C-T
gnomAD v4:
2-237377168-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237377168C>T , CM000664.2:g.237377168C>T | GRCh38 |
| NC_000002.11:g.238285811C>T , CM000664.1:g.238285811C>T | GRCh37 |
| NC_000002.10:g.237950550C>T | NCBI36 |
| NG_008676.1:g.42040G>A , LRG_473:g.42040G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.2056G>A | ENSP00000315873.4:p.Glu686Lys | |
| ENST00000295550.9:c.2674G>A MANE Select | ENSP00000295550.4:p.Glu892Lys | |
| ENST00000295550.8:c.2674G>A | ENSP00000295550.4:p.Glu892Lys | |
| ENST00000347401.7:c.853G>A | ENSP00000315609.4:p.Glu285Lys | |
| ENST00000353578.8:c.2056G>A | ENSP00000315873.4:p.Glu686Lys | |
| ENST00000392003.6:c.1453G>A | ENSP00000375860.2:p.Glu485Lys | |
| ENST00000392004.7:c.2056G>A | ENSP00000375861.3:p.Glu686Lys | |
| ENST00000409809.5:c.2056G>A | ENSP00000386844.1:p.Glu686Lys | |
| ENST00000433762.1:c.2074G>A | ENSP00000389539.1:p.Glu692Lys | |
| ENST00000472056.5:c.853G>A | ENSP00000418285.1:p.Glu285Lys | |
| NM_004369.3:c.2674G>A , LRG_473t1:c.2674G>A | NP_004360.2:p.Glu892Lys | |
| NM_057164.4:c.1453G>A | NP_476505.3:p.Glu485Lys | |
| NM_057165.4:c.2056G>A | NP_476506.3:p.Glu686Lys | |
| NM_057166.4:c.853G>A | NP_476507.3:p.Glu285Lys | |
| NM_057167.3:c.2056G>A | NP_476508.2:p.Glu686Lys | |
| XM_005246065.1:c.2074G>A | XP_005246122.1:p.Glu692Lys | |
| XM_005246066.1:c.1453G>A | XP_005246123.1:p.Glu485Lys | |
| XM_006712253.1:c.2674G>A | XP_006712316.1:p.Glu892Lys | |
| XM_011510574.1:c.2674G>A | XP_011508876.1:p.Glu892Lys | |
| XM_011510575.1:c.268G>A | XP_011508877.1:p.Glu90Lys | |
| XM_017003304.1:c.268G>A | XP_016858793.1:p.Glu90Lys | |
| XM_024452684.1:c.1453G>A | XP_024308452.1:p.Glu485Lys | |
| NM_004369.4:c.2674G>A MANE Select | NP_004360.2:p.Glu892Lys | |
| NM_057164.5:c.1453G>A | NP_476505.3:p.Glu485Lys | |
| NM_057165.5:c.2056G>A | NP_476506.3:p.Glu686Lys | |
| NM_057166.5:c.853G>A | NP_476507.3:p.Glu285Lys | |
| NM_057167.4:c.2056G>A | NP_476508.2:p.Glu686Lys |