Linked Data
ClinVar Variation Id:
166805
dbSNP Id:
rs199688524
ExAC:
4:15587809 T / A
gnomAD v2:
4-15587809-T-A
gnomAD v3:
4-15586186-T-A
gnomAD v4:
4-15586186-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15586186T>A , CM000666.2:g.15586186T>A | GRCh38 |
| NC_000004.11:g.15587809T>A , CM000666.1:g.15587809T>A | GRCh37 |
| NC_000004.10:g.15196907T>A | NCBI36 |
| NG_013035.1:g.121321T>A , LRG_697:g.121321T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.4041T>A | ENSP00000374303.8:p.Ile1347= | |
| ENST00000424120.6:c.4005T>A MANE Select | ENSP00000403465.1:p.Ile1335= | |
| ENST00000503292.6:c.4005T>A | ENSP00000421809.1:p.Ile1335= | |
| ENST00000506643.5:c.3858T>A | ENSP00000422931.2:p.Ile1286= | |
| ENST00000514039.6:c.234T>A | ENSP00000488534.2:p.Ile78= | |
| ENST00000634028.2:c.3858T>A | ENSP00000488669.2:p.Ile1286= | |
| ENST00000650860.2:c.*1502T>A | ENSP00000498775.1:n.*1502T>A | |
| ENST00000674945.1:c.3681T>A | ENSP00000502333.1:p.Ile1227= | |
| ENST00000675768.1:n.1225T>A | ||
| ENST00000680586.1:n.4664T>A | ||
| ENST00000389652.9:c.3503T>A | ||
| ENST00000424120.5:c.4005T>A | ENSP00000403465.1:p.Ile1335= | |
| ENST00000503292.5:c.4005T>A | ENSP00000421809.1:p.Ile1335= | |
| ENST00000506643.4:c.2333T>A | ||
| ENST00000634028.1:c.3811T>A | ENSP00000488669.1:n.3811T>A | |
| NM_001080522.2:c.4005T>A , LRG_697t1:c.4005T>A | NP_001073991.2:p.Ile1335= | |
| XM_005248177.1:c.4005T>A | XP_005248234.1:p.Ile1335= | |
| XM_011513869.1:c.4023T>A | XP_011512171.1:p.Ile1341= | |
| XM_011513870.1:c.4023T>A | XP_011512172.1:p.Ile1341= | |
| XM_011513871.1:c.3876T>A | XP_011512173.1:p.Ile1292= | |
| XM_017008482.1:c.3858T>A | XP_016863971.1:p.Ile1286= | |
| NM_001378615.1:c.4005T>A MANE Select | NP_001365544.1:p.Ile1335= | |
| NM_001378617.1:c.3858T>A | NP_001365546.1:p.Ile1286= |