Revel Score:
ENST00000374625
0.630
ENST00000374630 (MANE Select)
0.630
ENST00000400191
0.630
ENST00000374632
0.630
ENST00000374627
0.630
gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22906853G>T , CM000663.2:g.22906853G>T | GRCh38 |
| NC_000001.10:g.23233346G>T , CM000663.1:g.23233346G>T | GRCh37 |
| NC_000001.9:g.23105933G>T | NCBI36 |
| NG_011804.2:g.201016G>T , LRG_780:g.201016G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374630.8:c.2032G>T MANE Select | ENSP00000363761.3:p.Asp678Tyr | |
| ENST00000374627.1:c.2017G>T | ENSP00000363758.1:p.Asp673Tyr | |
| ENST00000374630.7:c.2032G>T | ENSP00000363761.3:p.Asp678Tyr | |
| ENST00000374632.7:c.2035G>T | ENSP00000363763.3:p.Asp679Tyr | |
| ENST00000400191.7:c.2032G>T | ENSP00000383053.3:p.Asp678Tyr | |
| NM_001309192.1:c.1858G>T | NP_001296121.1:p.Asp620Tyr | |
| NM_001309193.1:c.2032G>T | NP_001296122.1:p.Asp678Tyr | |
| NM_004442.6:c.2035G>T | NP_004433.2:p.Asp679Tyr | |
| NM_004442.7:c.2035G>T , LRG_780t1:c.2035G>T | NP_004433.2:p.Asp679Tyr | |
| NM_017449.3:c.2032G>T | NP_059145.2:p.Asp678Tyr | |
| NM_017449.4:c.2032G>T , LRG_780t2:c.2032G>T | NP_059145.2:p.Asp678Tyr | |
| XM_006710441.2:c.2014G>T | XP_006710504.1:p.Asp672Tyr | |
| XM_006710442.2:c.1942G>T | XP_006710505.1:p.Asp648Tyr | |
| XM_011540976.1:c.709G>T | XP_011539278.1:p.Asp237Tyr | |
| XM_006710441.4:c.2014G>T | XP_006710504.1:p.Asp672Tyr | |
| XM_006710442.4:c.1942G>T | XP_006710505.1:p.Asp648Tyr | |
| XM_024453895.1:c.709G>T | XP_024309663.1:p.Asp237Tyr | |
| NM_001309192.2:c.1858G>T | NP_001296121.1:p.Asp620Tyr | |
| NM_001309193.2:c.2032G>T | NP_001296122.1:p.Asp678Tyr | |
| NM_017449.5:c.2032G>T MANE Select | NP_059145.2:p.Asp678Tyr |