Linked Data
ClinVar Variation Id:
197483
dbSNP Id:
rs553486570
gnomAD v2:
2-238234209-C-T
gnomAD v3:
2-237325566-C-T
gnomAD v4:
2-237325566-C-T
COSMIC:
COSM3051224
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237325566C>T , CM000664.2:g.237325566C>T | GRCh38 |
| NC_000002.11:g.238234209C>T , CM000664.1:g.238234209C>T | GRCh37 |
| NC_000002.10:g.237898948C>T | NCBI36 |
| NG_008676.1:g.93642G>A , LRG_473:g.93642G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1868G>A | ||
| ENST00000353578.9:c.8869G>A | ENSP00000315873.4:p.Ala2957Thr | |
| ENST00000682957.1:c.1614G>A | ||
| ENST00000683348.1:c.353G>A | ENSP00000508058.1:n.353G>A | |
| ENST00000295550.9:c.9487G>A MANE Select | ENSP00000295550.4:p.Ala3163Thr | |
| ENST00000295550.8:c.9487G>A | ENSP00000295550.4:p.Ala3163Thr | |
| ENST00000347401.7:c.7663G>A | ENSP00000315609.4:p.Ala2555Thr | |
| ENST00000353578.8:c.8869G>A | ENSP00000315873.4:p.Ala2957Thr | |
| ENST00000409809.5:c.8869G>A | ENSP00000386844.1:p.Ala2957Thr | |
| ENST00000472056.5:c.7666G>A | ENSP00000418285.1:p.Ala2556Thr | |
| ENST00000473258.1:n.4615G>A | ||
| ENST00000491769.1:n.5929G>A | ||
| NM_004369.3:c.9487G>A , LRG_473t1:c.9487G>A | NP_004360.2:p.Ala3163Thr | |
| NM_057166.4:c.7666G>A | NP_476507.3:p.Ala2556Thr | |
| NM_057167.3:c.8869G>A | NP_476508.2:p.Ala2957Thr | |
| XM_005246065.1:c.8887G>A | XP_005246122.1:p.Ala2963Thr | |
| XM_005246066.1:c.8266G>A | XP_005246123.1:p.Ala2756Thr | |
| XM_006712253.1:c.8986G>A | XP_006712316.1:p.Ala2996Thr | |
| XM_011510574.1:c.9484G>A | XP_011508876.1:p.Ala3162Thr | |
| XM_011510575.1:c.7081G>A | XP_011508877.1:p.Ala2361Thr | |
| XM_017003304.1:c.7081G>A | XP_016858793.1:p.Ala2361Thr | |
| XM_024452684.1:c.8266G>A | XP_024308452.1:p.Ala2756Thr | |
| NM_004369.4:c.9487G>A MANE Select | NP_004360.2:p.Ala3163Thr | |
| NM_057166.5:c.7666G>A | NP_476507.3:p.Ala2556Thr | |
| NM_057167.4:c.8869G>A | NP_476508.2:p.Ala2957Thr |