Linked Data
ClinVar Variation Id:
1612603
ClinVar RCV Id:
RCV002158043
dbSNP Id:
rs1333692352
gnomAD v4:
15-71811805-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811805C>T , CM000677.2:g.71811805C>T | GRCh38 |
| NC_000015.9:g.72104145C>T , CM000677.1:g.72104145C>T | GRCh37 |
| NC_000015.8:g.69891199C>T | NCBI36 |
| NG_009113.2:g.6251C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.285C>T MANE Select | ENSP00000482504.1:p.Ala95= | |
| ENST00000617575.4:c.285C>T | ENSP00000482504.1:p.Ala95= | |
| ENST00000621098.1:c.285C>T | ENSP00000479962.1:p.Ala95= | |
| ENST00000621736.4:c.21C>T | ENSP00000479254.1:p.Ala7= | |
| NM_014249.3:c.285C>T | NP_055064.1:p.Ala95= | |
| NM_016346.3:c.285C>T | NP_057430.1:p.Ala95= | |
| XM_011521146.1:c.21C>T | XP_011519448.1:p.Ala7= | |
| NM_014249.4:c.285C>T MANE Select | NP_055064.1:p.Ala95= | |
| NM_016346.4:c.285C>T | NP_057430.1:p.Ala95= |