Linked Data
dbSNP Id:
rs533192764
ExAC:
17:61554972 C / T
gnomAD v2:
17-61554972-C-T
gnomAD v3:
17-63477611-C-T
gnomAD v4:
17-63477611-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63477611C>T , CM000679.2:g.63477611C>T | GRCh38 |
| NC_000017.10:g.61554972C>T , CM000679.1:g.61554972C>T | GRCh37 |
| NC_000017.9:g.58908704C>T | NCBI36 |
| NG_011648.1:g.5539C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.249+268C>T MANE Select | ENSP00000290866.4:n.249+268C>T | |
| ENST00000290866.9:c.249+268C>T | ENSP00000290866.4:n.249+268C>T | |
| ENST00000428043.5:c.249+268C>T | ENSP00000397593.2:n.249+268C>T | |
| ENST00000579462.1:n.274+268C>T | ||
| ENST00000580318.1:n.119C>T | ||
| ENST00000582627.1:c.70C>T | ENSP00000462280.1:p.Pro24Ser | |
| ENST00000582678.5:c.249+268C>T | ENSP00000462995.1:n.249+268C>T | |
| ENST00000583336.5:n.283+268C>T | ||
| ENST00000584529.5:n.283+268C>T | ||
| NM_000789.3:c.249+268C>T | NP_000780.1:n.249+268C>T | |
| XM_005257110.1:c.-207+268C>T | XP_005257167.1:n.-207+268C>T | |
| NM_000789.4:c.249+268C>T MANE Select | NP_000780.1:n.249+268C>T | |
| NM_001382700.1:c.14+268C>T | NP_001369629.1:n.14+268C>T | |
| NM_001382701.1:c.-366+268C>T | NP_001369630.1:n.-366+268C>T |