Linked Data
ClinVar Variation Id:
420102
dbSNP Id:
rs144016984
ExAC:
17:78090874 A / C
gnomAD v2:
17-78090874-A-C
gnomAD v4:
17-80117075-A-C
ERepo:
CA8815680/MONDO:0009290/010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80117075A>C , CM000679.2:g.80117075A>C | GRCh38 |
| NC_000017.10:g.78090874A>C , CM000679.1:g.78090874A>C | GRCh37 |
| NC_000017.9:g.75705469A>C | NCBI36 |
| NG_009822.1:g.20520A>C , LRG_673:g.20520A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.2297A>C | ENSP00000460543.2:p.Tyr766Ser | |
| ENST00000572080.2:c.*435A>C | ENSP00000459972.2:n.*435A>C | |
| ENST00000577106.6:c.2297A>C | ENSP00000458306.2:p.Tyr766Ser | |
| ENST00000302262.8:c.2297A>C MANE Select | ENSP00000305692.3:p.Tyr766Ser | |
| ENST00000302262.7:c.2297A>C | ENSP00000305692.3:p.Tyr766Ser | |
| ENST00000390015.7:c.2297A>C | ENSP00000374665.3:p.Tyr766Ser | |
| ENST00000572080.1:c.716A>C | ||
| ENST00000573556.1:n.250A>C | ||
| NM_000152.3:c.2297A>C , LRG_673t1:c.2297A>C | NP_000143.2:p.Tyr766Ser | |
| NM_001079803.1:c.2297A>C | NP_001073271.1:p.Tyr766Ser | |
| NM_001079804.1:c.2297A>C | NP_001073272.1:p.Tyr766Ser | |
| XM_005257193.1:c.2297A>C | XP_005257250.1:p.Tyr766Ser | |
| XM_005257194.3:c.2297A>C | XP_005257251.1:p.Tyr766Ser | |
| NM_000152.4:c.2297A>C | NP_000143.2:p.Tyr766Ser | |
| NM_001079803.2:c.2297A>C | NP_001073271.1:p.Tyr766Ser | |
| NM_001079804.2:c.2297A>C | NP_001073272.1:p.Tyr766Ser | |
| XM_005257193.2:c.2297A>C | XP_005257250.1:p.Tyr766Ser | |
| XM_005257194.4:c.2297A>C | XP_005257251.1:p.Tyr766Ser | |
| NM_000152.5:c.2297A>C MANE Select | NP_000143.2:p.Tyr766Ser | |
| NM_001079803.3:c.2297A>C | NP_001073271.1:p.Tyr766Ser | |
| NM_001079804.3:c.2297A>C | NP_001073272.1:p.Tyr766Ser |