Linked Data
ClinVar Variation Id:
193067
dbSNP Id:
rs145354114
ExAC:
1:171621386 G / A
gnomAD v2:
1-171621386-G-A
gnomAD v3:
1-171652246-G-A
gnomAD v4:
1-171652246-G-A
ERepo:
CA238570/MONDO:0020367/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652246G>A , CM000663.2:g.171652246G>A | GRCh38 |
| NC_000001.10:g.171621386G>A , CM000663.1:g.171621386G>A | GRCh37 |
| NC_000001.9:g.169888009G>A | NCBI36 |
| NG_008859.1:g.5388C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.366C>T MANE Select | ENSP00000037502.5:p.Gly122= | |
| ENST00000638471.1:c.130+236C>T | ENSP00000491206.1:n.130+236C>T | |
| ENST00000037502.10:c.366C>T | ENSP00000037502.5:p.Gly122= | |
| ENST00000614688.1:c.366C>T | ENSP00000478680.1:p.Gly122= | |
| NM_000261.1:c.366C>T | NP_000252.1:p.Gly122= | |
| NM_000261.2:c.366C>T MANE Select | NP_000252.1:p.Gly122= |