Linked Data
dbSNP Id:
rs201223903
ExAC:
17:61574146 C / T
gnomAD v2:
17-61574146-C-T
gnomAD v3:
17-63496785-C-T
gnomAD v4:
17-63496785-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63496785C>T , CM000679.2:g.63496785C>T | GRCh38 |
| NC_000017.10:g.61574146C>T , CM000679.1:g.61574146C>T | GRCh37 |
| NC_000017.9:g.58927878C>T | NCBI36 |
| NG_011648.1:g.24713C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3504-13C>T MANE Select | ENSP00000290866.4:n.3504-13C>T | |
| ENST00000290863.10:c.1782-13C>T | ENSP00000290863.6:n.1782-13C>T | |
| ENST00000290866.9:c.3504-13C>T | ENSP00000290866.4:n.3504-13C>T | |
| ENST00000413513.7:c.1659-13C>T | ENSP00000392247.3:n.1659-13C>T | |
| ENST00000428043.5:c.3504-13C>T | ENSP00000397593.2:n.3504-13C>T | |
| ENST00000577418.5:n.514-13C>T | ||
| ENST00000577647.2:c.1782-13C>T | ENSP00000464149.1:n.1782-13C>T | |
| ENST00000578839.5:c.*1259-13C>T | ENSP00000462110.2:n.*1259-13C>T | |
| ENST00000579314.5:c.*1233-13C>T | ENSP00000462599.1:n.*1233-13C>T | |
| ENST00000579409.1:c.191-13C>T | ||
| ENST00000582244.1:n.378-13C>T | ||
| NM_000789.3:c.3504-13C>T | NP_000780.1:n.3504-13C>T | |
| NM_001178057.1:c.1659-13C>T | NP_001171528.1:n.1659-13C>T | |
| NM_152830.2:c.1782-13C>T | NP_690043.1:n.1782-13C>T | |
| XM_005257110.1:c.2955-13C>T | XP_005257167.1:n.2955-13C>T | |
| XM_006721737.2:c.1842-13C>T | XP_006721800.2:n.1842-13C>T | |
| XM_006721737.3:c.1842-13C>T | XP_006721800.2:n.1842-13C>T | |
| NM_000789.4:c.3504-13C>T MANE Select | NP_000780.1:n.3504-13C>T | |
| NM_001178057.2:c.1659-13C>T | NP_001171528.1:n.1659-13C>T | |
| NM_152830.3:c.1782-13C>T | NP_690043.1:n.1782-13C>T | |
| NM_001382700.1:c.2937-13C>T | NP_001369629.1:n.2937-13C>T | |
| NM_001382701.1:c.2652-13C>T | NP_001369630.1:n.2652-13C>T | |
| NM_001382702.1:c.1119-13C>T | NP_001369631.1:n.1119-13C>T | |
| NR_168483.1:n.1882-13C>T |