Linked Data
ClinVar Variation Id:
217603
ClinVar RCV Id:
RCV000201684
dbSNP Id:
rs863225174
gnomAD v3:
4-15601303-A-G
gnomAD v4:
4-15601303-A-G
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15601303A>G , CM000666.2:g.15601303A>G | GRCh38 |
| NC_000004.11:g.15602926A>G , CM000666.1:g.15602926A>G | GRCh37 |
| NC_000004.10:g.15212024A>G | NCBI36 |
| NG_013035.1:g.136438A>G , LRG_697:g.136438A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.4777A>G | ENSP00000374303.8:p.Thr1593Ala | |
| ENST00000424120.6:c.4741A>G MANE Select | ENSP00000403465.1:p.Thr1581Ala | |
| ENST00000503292.6:c.4741A>G | ENSP00000421809.1:p.Thr1581Ala | |
| ENST00000506643.5:c.4594A>G | ENSP00000422931.2:p.Thr1532Ala | |
| ENST00000514039.6:c.847A>G | ENSP00000488534.2:p.Thr283Ala | |
| ENST00000634028.2:c.4535A>G | ENSP00000488669.2:n.4535A>G | |
| ENST00000650860.2:c.*2238A>G | ENSP00000498775.1:n.*2238A>G | |
| ENST00000674945.1:c.4417A>G | ENSP00000502333.1:p.Thr1473Ala | |
| ENST00000389652.9:c.4239A>G | ||
| ENST00000424120.5:c.4741A>G | ENSP00000403465.1:p.Thr1581Ala | |
| ENST00000503292.5:c.4741A>G | ENSP00000421809.1:p.Thr1581Ala | |
| ENST00000506643.4:c.3010A>G | ||
| ENST00000514039.5:c.357A>G | ||
| ENST00000634028.1:c.4547A>G | ENSP00000488669.1:n.4547A>G | |
| NM_001080522.2:c.4741A>G , LRG_697t1:c.4741A>G | NP_001073991.2:p.Thr1581Ala | |
| XM_005248177.1:c.4741A>G | XP_005248234.1:p.Thr1581Ala | |
| XM_011513869.1:c.4759A>G | XP_011512171.1:p.Thr1587Ala | |
| XM_011513870.1:c.4759A>G | XP_011512172.1:p.Thr1587Ala | |
| XM_011513871.1:c.4612A>G | XP_011512173.1:p.Thr1538Ala | |
| XM_017008482.1:c.4594A>G | XP_016863971.1:p.Thr1532Ala | |
| NM_001378615.1:c.4741A>G MANE Select | NP_001365544.1:p.Thr1581Ala | |
| NM_001378617.1:c.4594A>G | NP_001365546.1:p.Thr1532Ala |