Linked Data
ClinVar Variation Id:
526690
ClinVar RCV Id:
RCV000631290
dbSNP Id:
rs1553620340
gnomAD v4:
3-10149865-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149865T>C , CM000665.2:g.10149865T>C | GRCh38 |
| NC_000003.11:g.10191549T>C , CM000665.1:g.10191549T>C | GRCh37 |
| NC_000003.10:g.10166549T>C | NCBI36 |
| NG_008212.3:g.13231T>C , LRG_322:g.13231T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*219T>C | ENSP00000512434.1:n.*219T>C | |
| ENST00000696143.1:c.678T>C | ENSP00000512435.1:n.678T>C | |
| ENST00000696153.1:c.653T>C | ENSP00000512444.1:p.Val218Ala | |
| ENST00000256474.3:c.542T>C MANE Select | ENSP00000256474.3:p.Val181Ala | |
| ENST00000256474.2:c.542T>C | ENSP00000256474.2:p.Val181Ala | |
| ENST00000345392.2:c.419T>C | ENSP00000344757.2:p.Val140Ala | |
| ENST00000477538.1:n.678T>C | ||
| NM_000551.3:c.542T>C , LRG_322t1:c.542T>C | NP_000542.1:p.Val181Ala | |
| NM_198156.2:c.419T>C | NP_937799.1:p.Val140Ala | |
| NM_001354723.1:c.*96T>C | NP_001341652.1:n.*96T>C | |
| NM_000551.4:c.542T>C MANE Select | NP_000542.1:p.Val181Ala | |
| NM_001354723.2:c.*96T>C | NP_001341652.1:n.*96T>C | |
| NM_198156.3:c.419T>C | NP_937799.1:p.Val140Ala |