Linked Data
ClinVar Variation Id:
293717
dbSNP Id:
rs61730977
ExAC:
1:171621275 T / C
gnomAD v2:
1-171621275-T-C
gnomAD v3:
1-171652135-T-C
gnomAD v4:
1-171652135-T-C
ERepo:
CA1244271/MONDO:0020367/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652135T>C , CM000663.2:g.171652135T>C | GRCh38 |
| NC_000001.10:g.171621275T>C , CM000663.1:g.171621275T>C | GRCh37 |
| NC_000001.9:g.169887898T>C | NCBI36 |
| NG_008859.1:g.5499A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.477A>G MANE Select | ENSP00000037502.5:p.Leu159= | |
| ENST00000638471.1:c.130+347A>G | ENSP00000491206.1:n.130+347A>G | |
| ENST00000037502.10:c.477A>G | ENSP00000037502.5:p.Leu159= | |
| ENST00000614688.1:c.477A>G | ENSP00000478680.1:p.Leu159= | |
| NM_000261.1:c.477A>G | NP_000252.1:p.Leu159= | |
| NM_000261.2:c.477A>G MANE Select | NP_000252.1:p.Leu159= |