Linked Data
ClinVar Variation Id:
2439435
dbSNP Id:
rs768354002
ExAC:
7:70255845 G / A
gnomAD v2:
7-70255845-G-A
gnomAD v3:
7-70790859-G-A
gnomAD v4:
7-70790859-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70790859G>A , CM000669.2:g.70790859G>A | GRCh38 |
| NC_000007.13:g.70255845G>A , CM000669.1:g.70255845G>A | GRCh37 |
| NC_000007.12:g.69893781G>A | NCBI36 |
| NG_034133.1:g.1196941G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700075.1:c.1569G>A | ENSP00000514784.1:n.1569G>A | |
| ENST00000342771.10:c.3643G>A MANE Select | ENSP00000344087.4:p.Ala1215Thr | |
| ENST00000644359.1:c.2224G>A | ENSP00000494561.1:p.Ala742Thr | |
| ENST00000644506.1:c.2269G>A | ENSP00000496672.1:p.Ala757Thr | |
| ENST00000644939.1:c.3640G>A | ENSP00000496726.1:p.Ala1214Thr | |
| ENST00000647140.1:c.2508G>A | ||
| ENST00000342771.8:c.3643G>A | ENSP00000344087.4:p.Ala1215Thr | |
| ENST00000406775.6:c.3571G>A | ENSP00000385263.2:p.Ala1191Thr | |
| ENST00000611706.4:c.2899G>A | ENSP00000478134.1:p.Ala967Thr | |
| ENST00000615871.4:c.2827G>A | ENSP00000479325.1:p.Ala943Thr | |
| NM_001127231.2:c.3571G>A | NP_001120703.1:p.Ala1191Thr | |
| NM_015570.3:c.3643G>A | NP_056385.1:p.Ala1215Thr | |
| XM_005250257.1:c.2290G>A | XP_005250314.1:p.Ala764Thr | |
| XM_011516010.1:c.3664G>A | XP_011514312.1:p.Ala1222Thr | |
| XM_011516011.1:c.3661G>A | XP_011514313.1:p.Ala1221Thr | |
| XM_011516012.1:c.3598G>A | XP_011514314.1:p.Ala1200Thr | |
| XM_011516013.1:c.3592G>A | XP_011514315.1:p.Ala1198Thr | |
| XM_011516014.1:c.3562G>A | XP_011514316.1:p.Ala1188Thr | |
| XM_011516015.1:c.3400G>A | XP_011514317.1:p.Ala1134Thr | |
| XM_011516016.1:c.3373G>A | XP_011514318.1:p.Ala1125Thr | |
| XM_011516017.1:c.3190G>A | XP_011514319.1:p.Ala1064Thr | |
| XM_011516018.1:c.3163G>A | XP_011514320.1:p.Ala1055Thr | |
| XM_005250257.2:c.2290G>A | XP_005250314.1:p.Ala764Thr | |
| XM_011516010.2:c.3664G>A | XP_011514312.1:p.Ala1222Thr | |
| XM_011516011.2:c.3661G>A | XP_011514313.1:p.Ala1221Thr | |
| XM_011516012.2:c.3598G>A | XP_011514314.1:p.Ala1200Thr | |
| XM_011516013.2:c.3592G>A | XP_011514315.1:p.Ala1198Thr | |
| XM_011516014.2:c.3562G>A | XP_011514316.1:p.Ala1188Thr | |
| XM_011516017.2:c.3190G>A | XP_011514319.1:p.Ala1064Thr | |
| XM_011516018.2:c.3163G>A | XP_011514320.1:p.Ala1055Thr | |
| XM_017011951.2:c.*1138G>A | XP_016867440.1:n.*1138G>A | |
| NM_001127231.3:c.3571G>A | NP_001120703.1:p.Ala1191Thr | |
| NM_015570.4:c.3643G>A MANE Select | NP_056385.1:p.Ala1215Thr |