Linked Data
ClinVar Variation Id:
506315
ClinVar RCV Id:
RCV000608741
dbSNP Id:
rs754796428
ExAC:
15:67358475 C / T
gnomAD v2:
15-67358475-C-T
gnomAD v3:
15-67066137-C-T
gnomAD v4:
15-67066137-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67066137C>T , CM000677.2:g.67066137C>T | GRCh38 |
| NC_000015.9:g.67358475C>T , CM000677.1:g.67358475C>T | GRCh37 |
| NC_000015.8:g.65145529C>T | NCBI36 |
| NG_011990.1:g.5281C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559460.6:c.-110+2193C>T | ENSP00000453082.2:n.-110+2193C>T | |
| ENST00000560424.2:c.-18C>T | ENSP00000455540.2:n.-18C>T | |
| ENST00000327367.9:c.-18C>T MANE Select | ENSP00000332973.4:n.-18C>T | |
| ENST00000327367.8:c.-18C>T | ENSP00000332973.4:n.-18C>T | |
| ENST00000559460.5:c.-110+2193C>T | ENSP00000453082.1:n.-110+2193C>T | |
| NM_005902.3:c.-18C>T | NP_005893.1:n.-18C>T | |
| XM_011521559.1:c.-18C>T | XP_011519861.1:n.-18C>T | |
| XM_011521559.3:c.-18C>T | XP_011519861.1:n.-18C>T | |
| NM_005902.4:c.-18C>T MANE Select | NP_005893.1:n.-18C>T |