Linked Data
ClinVar Variation Id:
286480
dbSNP Id:
rs563813743
ExAC:
2:238244852 G / A
gnomAD v2:
2-238244852-G-A
gnomAD v3:
2-237336209-G-A
gnomAD v4:
2-237336209-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336209G>A , CM000664.2:g.237336209G>A | GRCh38 |
| NC_000002.11:g.238244852G>A , CM000664.1:g.238244852G>A | GRCh37 |
| NC_000002.10:g.237909591G>A | NCBI36 |
| NG_008676.1:g.82999C>T , LRG_473:g.82999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1536C>T | ||
| ENST00000353578.9:c.8273C>T | ENSP00000315873.4:p.Ala2758Val | |
| ENST00000682957.1:c.1018C>T | ||
| ENST00000684508.1:n.1158C>T | ||
| ENST00000295550.9:c.8891C>T MANE Select | ENSP00000295550.4:p.Ala2964Val | |
| ENST00000295550.8:c.8891C>T | ENSP00000295550.4:p.Ala2964Val | |
| ENST00000347401.7:c.7067C>T | ENSP00000315609.4:p.Ala2356Val | |
| ENST00000353578.8:c.8273C>T | ENSP00000315873.4:p.Ala2758Val | |
| ENST00000409809.5:c.8273C>T | ENSP00000386844.1:p.Ala2758Val | |
| ENST00000472056.5:c.7070C>T | ENSP00000418285.1:p.Ala2357Val | |
| ENST00000491769.1:n.5333C>T | ||
| NM_004369.3:c.8891C>T , LRG_473t1:c.8891C>T | NP_004360.2:p.Ala2964Val | |
| NM_057166.4:c.7070C>T | NP_476507.3:p.Ala2357Val | |
| NM_057167.3:c.8273C>T | NP_476508.2:p.Ala2758Val | |
| XM_005246065.1:c.8291C>T | XP_005246122.1:p.Ala2764Val | |
| XM_005246066.1:c.7670C>T | XP_005246123.1:p.Ala2557Val | |
| XM_006712253.1:c.8390C>T | XP_006712316.1:p.Ala2797Val | |
| XM_011510574.1:c.8888C>T | XP_011508876.1:p.Ala2963Val | |
| XM_011510575.1:c.6485C>T | XP_011508877.1:p.Ala2162Val | |
| XM_017003304.1:c.6485C>T | XP_016858793.1:p.Ala2162Val | |
| XM_024452684.1:c.7670C>T | XP_024308452.1:p.Ala2557Val | |
| NM_004369.4:c.8891C>T MANE Select | NP_004360.2:p.Ala2964Val | |
| NM_057166.5:c.7070C>T | NP_476507.3:p.Ala2357Val | |
| NM_057167.4:c.8273C>T | NP_476508.2:p.Ala2758Val |