Linked Data
ClinVar Variation Id:
127001
ClinVar RCV Id:
RCV000114867
dbSNP Id:
rs104895048
ExAC:
5:131951857 C / T
gnomAD v2:
5-131951857-C-T
gnomAD v3:
5-132616165-C-T
gnomAD v4:
5-132616165-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132616165C>T , CM000667.2:g.132616165C>T | GRCh38 |
| NC_000005.9:g.131951857C>T , CM000667.1:g.131951857C>T | GRCh37 |
| NC_000005.8:g.131979756C>T | NCBI36 |
| NG_021151.1:g.64242C>T | |
| NG_021151.2:g.64189C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.3164+35C>T MANE Select | ENSP00000368100.4:n.3164+35C>T | |
| ENST00000638452.2:c.2867+35C>T | ENSP00000492349.2:n.2867+35C>T | |
| ENST00000638504.1:n.2772+35C>T | ||
| ENST00000638568.2:c.2867+35C>T | ENSP00000491158.2:n.2867+35C>T | |
| ENST00000639899.1:n.3683+35C>T | ||
| ENST00000640655.2:c.2867+35C>T | ENSP00000491596.2:n.2867+35C>T | |
| ENST00000378823.7:c.3164+35C>T | ENSP00000368100.4:n.3164+35C>T | |
| ENST00000533482.5:c.*2790+35C>T | ENSP00000431225.1:n.*2790+35C>T | |
| NM_005732.3:c.3164+35C>T | NP_005723.2:n.3164+35C>T | |
| NM_005732.4:c.3164+35C>T MANE Select | NP_005723.2:n.3164+35C>T |