Linked Data
ClinVar Variation Id:
2195241
ClinVar RCV Id:
RCV002628523
dbSNP Id:
rs762932040
ExAC:
17:40688678 C / T
gnomAD v2:
17-40688678-C-T
gnomAD v4:
17-42536660-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536660C>T , CM000679.2:g.42536660C>T | GRCh38 |
| NC_000017.10:g.40688678C>T , CM000679.1:g.40688678C>T | GRCh37 |
| NC_000017.9:g.37942204C>T | NCBI36 |
| NG_011552.1:g.5728C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.383+5C>T MANE Select | ENSP00000225927.1:n.383+5C>T | |
| ENST00000225927.6:c.383+5C>T | ENSP00000225927.1:n.383+5C>T | |
| ENST00000586516.5:c.133+5C>T | ||
| ENST00000591587.1:c.126+5C>T | ENSP00000467836.1:n.126+5C>T | |
| NM_000263.3:c.383+5C>T | NP_000254.2:n.383+5C>T | |
| XM_006721920.2:c.-360+5C>T | XP_006721983.1:n.-360+5C>T | |
| XM_011524840.1:c.-360+5C>T | XP_011523142.1:n.-360+5C>T | |
| XM_024450771.1:c.383+5C>T | XP_024306539.1:n.383+5C>T | |
| NM_000263.4:c.383+5C>T MANE Select | NP_000254.2:n.383+5C>T |