Linked Data
ClinVar Variation Id:
317007
dbSNP Id:
rs558123422
ExAC:
15:72104124 G / T
gnomAD v2:
15-72104124-G-T
gnomAD v3:
15-71811784-G-T
gnomAD v4:
15-71811784-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811784G>T , CM000677.2:g.71811784G>T | GRCh38 |
| NC_000015.9:g.72104124G>T , CM000677.1:g.72104124G>T | GRCh37 |
| NC_000015.8:g.69891178G>T | NCBI36 |
| NG_009113.2:g.6230G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.264G>T MANE Select | ENSP00000482504.1:p.Gly88= | |
| ENST00000617575.4:c.264G>T | ENSP00000482504.1:p.Gly88= | |
| ENST00000621098.1:c.264G>T | ENSP00000479962.1:p.Gly88= | |
| ENST00000621736.4:c.-1G>T | ENSP00000479254.1:n.-1G>T | |
| NM_014249.3:c.264G>T | NP_055064.1:p.Gly88= | |
| NM_016346.3:c.264G>T | NP_057430.1:p.Gly88= | |
| XM_011521146.1:c.-1G>T | XP_011519448.1:n.-1G>T | |
| NM_014249.4:c.264G>T MANE Select | NP_055064.1:p.Gly88= | |
| NM_016346.4:c.264G>T | NP_057430.1:p.Gly88= |