Linked Data
ClinVar Variation Id:
421347
dbSNP Id:
rs199695154
ExAC:
4:15602914 G / A
gnomAD v2:
4-15602914-G-A
gnomAD v3:
4-15601291-G-A
gnomAD v4:
4-15601291-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15601291G>A , CM000666.2:g.15601291G>A | GRCh38 |
| NC_000004.11:g.15602914G>A , CM000666.1:g.15602914G>A | GRCh37 |
| NC_000004.10:g.15212012G>A | NCBI36 |
| NG_013035.1:g.136426G>A , LRG_697:g.136426G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.4765G>A | ENSP00000374303.8:p.Ala1589Thr | |
| ENST00000424120.6:c.4729G>A MANE Select | ENSP00000403465.1:p.Ala1577Thr | |
| ENST00000503292.6:c.4729G>A | ENSP00000421809.1:p.Ala1577Thr | |
| ENST00000506643.5:c.4582G>A | ENSP00000422931.2:p.Ala1528Thr | |
| ENST00000514039.6:c.835G>A | ENSP00000488534.2:p.Ala279Thr | |
| ENST00000634028.2:c.4523G>A | ENSP00000488669.2:n.4523G>A | |
| ENST00000650860.2:c.*2226G>A | ENSP00000498775.1:n.*2226G>A | |
| ENST00000674945.1:c.4405G>A | ENSP00000502333.1:p.Ala1469Thr | |
| ENST00000389652.9:c.4227G>A | ||
| ENST00000424120.5:c.4729G>A | ENSP00000403465.1:p.Ala1577Thr | |
| ENST00000503292.5:c.4729G>A | ENSP00000421809.1:p.Ala1577Thr | |
| ENST00000506643.4:c.2998G>A | ||
| ENST00000514039.5:c.345G>A | ||
| ENST00000634028.1:c.4535G>A | ENSP00000488669.1:n.4535G>A | |
| NM_001080522.2:c.4729G>A , LRG_697t1:c.4729G>A | NP_001073991.2:p.Ala1577Thr | |
| XM_005248177.1:c.4729G>A | XP_005248234.1:p.Ala1577Thr | |
| XM_011513869.1:c.4747G>A | XP_011512171.1:p.Ala1583Thr | |
| XM_011513870.1:c.4747G>A | XP_011512172.1:p.Ala1583Thr | |
| XM_011513871.1:c.4600G>A | XP_011512173.1:p.Ala1534Thr | |
| XM_017008482.1:c.4582G>A | XP_016863971.1:p.Ala1528Thr | |
| NM_001378615.1:c.4729G>A MANE Select | NP_001365544.1:p.Ala1577Thr | |
| NM_001378617.1:c.4582G>A | NP_001365546.1:p.Ala1528Thr |