Linked Data
ClinVar Variation Id:
1723170
ClinVar RCV Id:
RCV002306270
dbSNP Id:
rs368702811
ExAC:
1:171621443 G / A
gnomAD v2:
1-171621443-G-A
gnomAD v3:
1-171652303-G-A
gnomAD v4:
1-171652303-G-A
ERepo:
CA1244297/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652303G>A , CM000663.2:g.171652303G>A | GRCh38 |
| NC_000001.10:g.171621443G>A , CM000663.1:g.171621443G>A | GRCh37 |
| NC_000001.9:g.169888066G>A | NCBI36 |
| NG_008859.1:g.5331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.309C>T MANE Select | ENSP00000037502.5:p.Thr103= | |
| ENST00000638471.1:c.130+179C>T | ENSP00000491206.1:n.130+179C>T | |
| ENST00000037502.10:c.309C>T | ENSP00000037502.5:p.Thr103= | |
| ENST00000614688.1:c.309C>T | ENSP00000478680.1:p.Thr103= | |
| NM_000261.1:c.309C>T | NP_000252.1:p.Thr103= | |
| NM_000261.2:c.309C>T MANE Select | NP_000252.1:p.Thr103= |