Linked Data
dbSNP Id:
rs571812042
ExAC:
17:61909355 C / T
gnomAD v2:
17-61909355-C-T
gnomAD v3:
17-63831995-C-T
gnomAD v4:
17-63831995-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63831995C>T , CM000679.2:g.63831995C>T | GRCh38 |
| NC_000017.10:g.61909355C>T , CM000679.1:g.61909355C>T | GRCh37 |
| NC_000017.9:g.59263087C>T | NCBI36 |
| NG_053004.1:g.15997G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584880.6:c.*444C>T | ENSP00000464347.2:n.*444C>T | |
| ENST00000703608.1:c.*764C>T | ENSP00000515392.1:n.*764C>T | |
| ENST00000703609.1:c.*26C>T | ENSP00000515393.1:n.*26C>T | |
| ENST00000310144.11:c.*26C>T MANE Select | ENSP00000310572.6:n.*26C>T | |
| ENST00000310144.10:c.*26C>T | ENSP00000310572.6:n.*26C>T | |
| ENST00000375812.8:c.*26C>T | ENSP00000364970.4:n.*26C>T | |
| ENST00000578570.5:n.1657C>T | ||
| ENST00000579147.5:n.2562C>T | ||
| ENST00000580864.5:c.*26C>T | ENSP00000462495.1:n.*26C>T | |
| ENST00000584657.1:n.552C>T | ||
| NM_001199163.1:c.*26C>T | NP_001186092.1:n.*26C>T | |
| NM_002805.5:c.*26C>T | NP_002796.4:n.*26C>T | |
| XM_006721980.1:c.*26C>T | XP_006722043.1:n.*26C>T | |
| XR_934508.1:n.1336C>T | ||
| XM_024450840.1:c.*26C>T | XP_024306608.1:n.*26C>T | |
| XM_024450841.1:c.*26C>T | XP_024306609.1:n.*26C>T | |
| XR_934508.2:n.1323C>T | ||
| NM_002805.6:c.*26C>T MANE Select | NP_002796.4:n.*26C>T | |
| NM_001199163.2:c.*26C>T | NP_001186092.1:n.*26C>T |