Linked Data
ClinVar Variation Id:
1703223
ClinVar RCV Id:
RCV002280346
dbSNP Id:
rs1439192102
gnomAD v2:
1-171621611-G-A
gnomAD v3:
1-171652471-G-A
gnomAD v4:
1-171652471-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652471G>A , CM000663.2:g.171652471G>A | GRCh38 |
| NC_000001.10:g.171621611G>A , CM000663.1:g.171621611G>A | GRCh37 |
| NC_000001.9:g.169888234G>A | NCBI36 |
| NG_008859.1:g.5163C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.141C>T MANE Select | ENSP00000037502.5:p.Cys47= | |
| ENST00000638471.1:c.130+11C>T | ENSP00000491206.1:n.130+11C>T | |
| ENST00000037502.10:c.141C>T | ENSP00000037502.5:p.Cys47= | |
| ENST00000614688.1:c.141C>T | ENSP00000478680.1:p.Cys47= | |
| NM_000261.1:c.141C>T | NP_000252.1:p.Cys47= | |
| NM_000261.2:c.141C>T MANE Select | NP_000252.1:p.Cys47= |