Linked Data
dbSNP Id:
rs777114717
ExAC:
11:67379371 G / T
gnomAD v2:
11-67379371-G-T
COSMIC:
COSM5920170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611900G>T , CM000673.2:g.67611900G>T | GRCh38 |
| NC_000011.9:g.67379371G>T , CM000673.1:g.67379371G>T | GRCh37 |
| NC_000011.8:g.67135947G>T | NCBI36 |
| NG_013353.1:g.10049G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.1084G>T MANE Select | ENSP00000322450.6:p.Asp362Tyr | |
| ENST00000647561.1:c.1084G>T | ENSP00000497587.1:p.Asp362Tyr | |
| ENST00000322776.10:c.1084G>T | ENSP00000322450.6:p.Asp362Tyr | |
| ENST00000415352.6:c.1063G>T | ENSP00000395368.2:p.Asp355Tyr | |
| ENST00000526169.1:n.707G>T | ||
| ENST00000526770.5:n.1367G>T | ||
| ENST00000527355.5:c.370-220G>T | ENSP00000432637.1:n.370-220G>T | |
| ENST00000527923.1:n.426G>T | ||
| ENST00000529927.5:c.1057G>T | ENSP00000436766.1:p.Asp353Tyr | |
| ENST00000531250.1:n.348G>T | ||
| ENST00000532303.5:c.781G>T | ENSP00000432015.1:p.Asp261Tyr | |
| ENST00000533919.5:c.488G>T | ENSP00000435199.1:n.488G>T | |
| ENST00000534352.1:n.182G>T | ||
| NM_001166102.1:c.1057G>T | NP_001159574.1:p.Asp353Tyr | |
| NM_007103.3:c.1084G>T | NP_009034.2:p.Asp362Tyr | |
| NM_001166102.2:c.1057G>T | NP_001159574.1:p.Asp353Tyr | |
| NM_007103.4:c.1084G>T MANE Select | NP_009034.2:p.Asp362Tyr |