Linked Data
ClinVar Variation Id:
13650
ClinVar RCV Id:
RCV000014620
dbSNP Id:
rs121918371
gnomAD v2:
1-64095192-A-G
gnomAD v4:
1-63629521-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63629521A>G , CM000663.2:g.63629521A>G | GRCh38 |
| NC_000001.10:g.64095192A>G , CM000663.1:g.64095192A>G | GRCh37 |
| NC_000001.9:g.63867780A>G | NCBI36 |
| NG_016966.1:g.41246A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.343A>G MANE Select | ENSP00000360125.3:p.Thr115Ala | |
| ENST00000650546.1:c.343A>G | ENSP00000497812.1:p.Thr115Ala | |
| ENST00000371083.4:c.397A>G | ENSP00000360124.4:p.Thr133Ala | |
| ENST00000371084.7:c.343A>G | ENSP00000360125.3:p.Thr115Ala | |
| ENST00000540265.5:c.-249A>G | ENSP00000443449.1:n.-249A>G | |
| NM_001172818.1:c.397A>G | NP_001166289.1:p.Thr133Ala | |
| NM_001172819.1:c.-249A>G | NP_001166290.1:n.-249A>G | |
| NM_002633.2:c.343A>G | NP_002624.2:p.Thr115Ala | |
| NM_002633.3:c.343A>G MANE Select | NP_002624.2:p.Thr115Ala | |
| NM_001172819.2:c.-249A>G | NP_001166290.1:n.-249A>G |