Linked Data
ClinVar Variation Id:
2732990
ClinVar RCV Id:
RCV003561962
dbSNP Id:
rs777624431
ExAC:
15:72103805 C / T
gnomAD v2:
15-72103805-C-T
gnomAD v3:
15-71811465-C-T
gnomAD v4:
15-71811465-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811465C>T , CM000677.2:g.71811465C>T | GRCh38 |
| NC_000015.9:g.72103805C>T , CM000677.1:g.72103805C>T | GRCh37 |
| NC_000015.8:g.69890859C>T | NCBI36 |
| NG_009113.2:g.5911C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.119-18C>T MANE Select | ENSP00000482504.1:n.119-18C>T | |
| ENST00000617575.4:c.119-18C>T | ENSP00000482504.1:n.119-18C>T | |
| ENST00000621098.1:c.119-18C>T | ENSP00000479962.1:n.119-18C>T | |
| ENST00000621736.4:c.-146-18C>T | ENSP00000479254.1:n.-146-18C>T | |
| NM_014249.3:c.119-18C>T | NP_055064.1:n.119-18C>T | |
| NM_016346.3:c.119-18C>T | NP_057430.1:n.119-18C>T | |
| XM_011521146.1:c.-146-18C>T | XP_011519448.1:n.-146-18C>T | |
| NM_014249.4:c.119-18C>T MANE Select | NP_055064.1:n.119-18C>T | |
| NM_016346.4:c.119-18C>T | NP_057430.1:n.119-18C>T |