Linked Data
ClinVar Variation Id:
1703225
ClinVar RCV Id:
RCV002280348
gnomAD v4:
1-171652210-T-C
MyVariant Identifiers:
chr1:g.171621350T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652210T>C , CM000663.2:g.171652210T>C | GRCh38 |
| NC_000001.10:g.171621350T>C , CM000663.1:g.171621350T>C | GRCh37 |
| NC_000001.9:g.169887973T>C | NCBI36 |
| NG_008859.1:g.5424A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.402A>G MANE Select | ENSP00000037502.5:p.Gln134= | |
| ENST00000638471.1:c.130+272A>G | ENSP00000491206.1:n.130+272A>G | |
| ENST00000037502.10:c.402A>G | ENSP00000037502.5:p.Gln134= | |
| ENST00000614688.1:c.402A>G | ENSP00000478680.1:p.Gln134= | |
| NM_000261.1:c.402A>G | NP_000252.1:p.Gln134= | |
| NM_000261.2:c.402A>G MANE Select | NP_000252.1:p.Gln134= |