Linked Data
dbSNP Id:
rs150253659
ExAC:
11:66282075 C / A
gnomAD v2:
11-66282075-C-A
gnomAD v4:
11-66514604-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66514604C>A , CM000673.2:g.66514604C>A | GRCh38 |
| NC_000011.9:g.66282075C>A , CM000673.1:g.66282075C>A | GRCh37 |
| NC_000011.8:g.66038651C>A | NCBI36 |
| NG_009093.1:g.8957C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.358C>A MANE Select | ENSP00000317469.7:p.Pro120Thr | |
| ENST00000318312.11:c.358C>A | ENSP00000317469.7:p.Pro120Thr | |
| ENST00000393994.4:c.358C>A | ENSP00000377563.2:p.Pro120Thr | |
| ENST00000419755.3:c.469C>A | ENSP00000398526.3:p.Pro157Thr | |
| ENST00000455748.6:c.358C>A | ENSP00000405764.2:p.Pro120Thr | |
| ENST00000524458.5:c.*65C>A | ENSP00000436195.1:n.*65C>A | |
| ENST00000524705.2:c.79C>A | ENSP00000436927.1:p.Pro27Thr | |
| ENST00000524907.5:n.348C>A | ||
| ENST00000525809.5:c.160-936C>A | ENSP00000431187.1:n.160-936C>A | |
| ENST00000526035.5:c.*65C>A | ENSP00000434197.1:n.*65C>A | |
| ENST00000526760.5:c.*65C>A | ENSP00000432140.1:n.*65C>A | |
| ENST00000527251.5:c.*65C>A | ENSP00000434360.1:n.*65C>A | |
| ENST00000529766.5:n.365C>A | ||
| ENST00000529953.5:n.10C>A | ||
| ENST00000529955.5:n.376C>A | ||
| ENST00000532908.5:c.*65C>A | ENSP00000431866.1:n.*65C>A | |
| ENST00000533430.5:n.136C>A | ||
| ENST00000533557.5:c.*65C>A | ENSP00000434619.1:n.*65C>A | |
| ENST00000533644.5:c.358C>A | ENSP00000436073.1:p.Pro120Thr | |
| ENST00000534730.5:n.370C>A | ||
| ENST00000630659.2:c.*65C>A | ENSP00000486455.1:n.*65C>A | |
| NM_024649.4:c.358C>A | NP_078925.3:p.Pro120Thr | |
| NM_024649.5:c.358C>A MANE Select | NP_078925.3:p.Pro120Thr |