Linked Data
ClinVar Variation Id:
752205
dbSNP Id:
rs104894236
ExAC:
11:17409603 G / A
gnomAD v2:
11-17409603-G-A
gnomAD v4:
11-17388056-G-A
COSMIC:
COSM4694403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17388056G>A , CM000673.2:g.17388056G>A | GRCh38 |
| NC_000011.9:g.17409603G>A , CM000673.1:g.17409603G>A | GRCh37 |
| NC_000011.8:g.17366179G>A | NCBI36 |
| NG_012446.1:g.5604C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000528992.2:c.-193C>T | ENSP00000436479.2:n.-193C>T | |
| ENST00000682350.1:c.-16-210C>T | ENSP00000508090.1:n.-16-210C>T | |
| ENST00000682764.1:c.-16-210C>T | ENSP00000506780.1:n.-16-210C>T | |
| ENST00000339994.5:c.36C>T MANE Select | ENSP00000345708.4:p.Tyr12= | |
| ENST00000339994.4:c.36C>T | ENSP00000345708.4:p.Tyr12= | |
| ENST00000526912.1:c.-55C>T | ENSP00000432729.1:n.-55C>T | |
| ENST00000528731.1:c.-16-210C>T | ENSP00000434755.1:n.-16-210C>T | |
| ENST00000528992.1:c.53C>T | ||
| NM_000525.3:c.36C>T | NP_000516.3:p.Tyr12= | |
| NM_001166290.1:c.-16-210C>T | NP_001159762.1:n.-16-210C>T | |
| XM_006718226.2:c.-16-210C>T | XP_006718289.1:n.-16-210C>T | |
| XR_930867.1:n.194C>T | ||
| XM_006718226.3:c.-16-210C>T | XP_006718289.1:n.-16-210C>T | |
| XM_017017680.1:c.-16-210C>T | XP_016873169.1:n.-16-210C>T | |
| NM_001166290.2:c.-16-210C>T | NP_001159762.1:n.-16-210C>T | |
| NM_001377296.1:c.-55C>T | NP_001364225.1:n.-55C>T | |
| NM_001377297.1:c.-16-210C>T | NP_001364226.1:n.-16-210C>T | |
| NM_000525.4:c.36C>T MANE Select | NP_000516.3:p.Tyr12= |