Linked Data
ClinVar Variation Id:
2765751
ClinVar RCV Id:
RCV003578475
dbSNP Id:
rs1260585219
gnomAD v2:
15-72103840-C-T
gnomAD v4:
15-71811500-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811500C>T , CM000677.2:g.71811500C>T | GRCh38 |
| NC_000015.9:g.72103840C>T , CM000677.1:g.72103840C>T | GRCh37 |
| NC_000015.8:g.69890894C>T | NCBI36 |
| NG_009113.2:g.5946C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.136C>T MANE Select | ENSP00000482504.1:p.Gln46Ter | |
| ENST00000617575.4:c.136C>T | ENSP00000482504.1:p.Gln46Ter | |
| ENST00000621098.1:c.136C>T | ENSP00000479962.1:p.Gln46Ter | |
| ENST00000621736.4:c.-129C>T | ENSP00000479254.1:n.-129C>T | |
| NM_014249.3:c.136C>T | NP_055064.1:p.Gln46Ter | |
| NM_016346.3:c.136C>T | NP_057430.1:p.Gln46Ter | |
| XM_011521146.1:c.-129C>T | XP_011519448.1:n.-129C>T | |
| NM_014249.4:c.136C>T MANE Select | NP_055064.1:p.Gln46Ter | |
| NM_016346.4:c.136C>T | NP_057430.1:p.Gln46Ter |