Linked Data
dbSNP Id:
rs779539652
ExAC:
11:66281941 T / A
gnomAD v2:
11-66281941-T-A
gnomAD v4:
11-66514470-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66514470T>A , CM000673.2:g.66514470T>A | GRCh38 |
| NC_000011.9:g.66281941T>A , CM000673.1:g.66281941T>A | GRCh37 |
| NC_000011.8:g.66038517T>A | NCBI36 |
| NG_009093.1:g.8823T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318312.12:c.224T>A MANE Select | ENSP00000317469.7:p.Leu75Gln | |
| ENST00000318312.11:c.224T>A | ENSP00000317469.7:p.Leu75Gln | |
| ENST00000393994.4:c.224T>A | ENSP00000377563.2:p.Leu75Gln | |
| ENST00000419755.3:c.335T>A | ENSP00000398526.3:p.Leu112Gln | |
| ENST00000455748.6:c.224T>A | ENSP00000405764.2:p.Leu75Gln | |
| ENST00000524458.5:c.99T>A | ENSP00000436195.1:p.Thr33= | |
| ENST00000524705.2:c.-20-36T>A | ENSP00000436927.1:n.-20-36T>A | |
| ENST00000524907.5:n.214T>A | ||
| ENST00000525809.5:c.160-1070T>A | ENSP00000431187.1:n.160-1070T>A | |
| ENST00000526035.5:c.189T>A | ENSP00000434197.1:p.Thr63= | |
| ENST00000526760.5:c.189T>A | ENSP00000432140.1:p.Thr63= | |
| ENST00000526815.5:c.134T>A | ENSP00000436860.1:p.Leu45Gln | |
| ENST00000527251.5:c.99T>A | ENSP00000434360.1:p.Thr33= | |
| ENST00000529766.5:n.231T>A | ||
| ENST00000529955.5:n.242T>A | ||
| ENST00000532908.5:c.189T>A | ENSP00000431866.1:p.Thr63= | |
| ENST00000533430.5:n.2T>A | ||
| ENST00000533557.5:c.189T>A | ENSP00000434619.1:p.Thr63= | |
| ENST00000533644.5:c.224T>A | ENSP00000436073.1:p.Leu75Gln | |
| ENST00000534730.5:n.236T>A | ||
| ENST00000630659.2:c.189T>A | ENSP00000486455.1:p.Thr63= | |
| NM_024649.4:c.224T>A | NP_078925.3:p.Leu75Gln | |
| NM_024649.5:c.224T>A MANE Select | NP_078925.3:p.Leu75Gln |