Linked Data
ClinVar Variation Id:
987298
ClinVar RCV Id:
RCV001268624
dbSNP Id:
rs1278137915
gnomAD v2:
15-72104123-G-T
gnomAD v4:
15-71811783-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811783G>T , CM000677.2:g.71811783G>T | GRCh38 |
| NC_000015.9:g.72104123G>T , CM000677.1:g.72104123G>T | GRCh37 |
| NC_000015.8:g.69891177G>T | NCBI36 |
| NG_009113.2:g.6229G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.263G>T MANE Select | ENSP00000482504.1:p.Gly88Val | |
| ENST00000617575.4:c.263G>T | ENSP00000482504.1:p.Gly88Val | |
| ENST00000621098.1:c.263G>T | ENSP00000479962.1:p.Gly88Val | |
| ENST00000621736.4:c.-2G>T | ENSP00000479254.1:n.-2G>T | |
| NM_014249.3:c.263G>T | NP_055064.1:p.Gly88Val | |
| NM_016346.3:c.263G>T | NP_057430.1:p.Gly88Val | |
| XM_011521146.1:c.-2G>T | XP_011519448.1:n.-2G>T | |
| NM_014249.4:c.263G>T MANE Select | NP_055064.1:p.Gly88Val | |
| NM_016346.4:c.263G>T | NP_057430.1:p.Gly88Val |