Linked Data
ClinVar Variation Id:
3075115
ClinVar RCV Id:
RCV004015641
dbSNP Id:
rs1292391353
gnomAD v2:
15-67358488-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67066150C>T , CM000677.2:g.67066150C>T | GRCh38 |
| NC_000015.9:g.67358488C>T , CM000677.1:g.67358488C>T | GRCh37 |
| NC_000015.8:g.65145542C>T | NCBI36 |
| NG_011990.1:g.5294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559460.6:c.-110+2206C>T | ENSP00000453082.2:n.-110+2206C>T | |
| ENST00000560424.2:c.-5C>T | ENSP00000455540.2:n.-5C>T | |
| ENST00000327367.9:c.-5C>T MANE Select | ENSP00000332973.4:n.-5C>T | |
| ENST00000327367.8:c.-5C>T | ENSP00000332973.4:n.-5C>T | |
| ENST00000559460.5:c.-110+2206C>T | ENSP00000453082.1:n.-110+2206C>T | |
| NM_005902.3:c.-5C>T | NP_005893.1:n.-5C>T | |
| XM_011521559.1:c.-5C>T | XP_011519861.1:n.-5C>T | |
| XM_011521559.3:c.-5C>T | XP_011519861.1:n.-5C>T | |
| NM_005902.4:c.-5C>T MANE Select | NP_005893.1:n.-5C>T |