Linked Data
ClinVar Variation Id:
918818
ClinVar RCV Id:
RCV001176648
dbSNP Id:
rs1572698169
gnomAD v4:
2-47783375-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47783375G>C , CM000664.2:g.47783375G>C | GRCh38 |
| NC_000002.11:g.48010514G>C , CM000664.1:g.48010514G>C | GRCh37 |
| NC_000002.10:g.47864018G>C | NCBI36 |
| NG_007111.1:g.5229G>C , LRG_219:g.5229G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700004.2:c.142G>C | ENSP00000514752.2:p.Ala48Pro | |
| ENST00000699999.1:n.226G>C | ||
| ENST00000700000.1:c.142G>C | ENSP00000514749.1:p.Ala48Pro | |
| ENST00000700001.1:n.214G>C | ||
| ENST00000700002.1:c.142G>C | ENSP00000514750.1:p.Ala48Pro | |
| ENST00000700003.1:c.142G>C | ENSP00000514751.1:p.Ala48Pro | |
| ENST00000234420.11:c.142G>C MANE Select | ENSP00000234420.5:p.Ala48Pro | |
| ENST00000540021.6:c.142G>C | ENSP00000446475.1:p.Ala48Pro | |
| ENST00000652107.1:c.-37-7552G>C | ENSP00000498629.1:n.-37-7552G>C | |
| ENST00000673637.1:c.-38+144G>C | ENSP00000501310.1:n.-38+144G>C | |
| ENST00000673922.1:n.231G>C | ||
| ENST00000234420.9:c.142G>C | ENSP00000234420.4:p.Ala48Pro | |
| ENST00000445503.5:c.142G>C | ENSP00000405294.1:p.Ala48Pro | |
| ENST00000456246.1:c.142G>C | ENSP00000410570.1:p.Ala48Pro | |
| ENST00000493177.1:n.206G>C | ||
| ENST00000540021.5:c.142G>C | ENSP00000446475.1:p.Ala48Pro | |
| ENST00000606499.1:c.-37-7552G>C | ENSP00000475605.1:n.-37-7552G>C | |
| ENST00000614496.4:c.-595G>C | ENSP00000477844.1:n.-595G>C | |
| ENST00000616033.4:c.140G>C | ENSP00000480261.1:p.Cys47Ser | |
| ENST00000622629.4:c.-2955G>C | ENSP00000482078.1:n.-2955G>C | |
| NM_000179.2:c.142G>C , LRG_219t1:c.142G>C | NP_000170.1:p.Ala48Pro | |
| NM_001281492.1:c.142G>C | NP_001268421.1:p.Ala48Pro | |
| NM_001281493.1:c.-595G>C | NP_001268422.1:n.-595G>C | |
| XM_011532800.1:c.-38+144G>C | XP_011531102.1:n.-38+144G>C | |
| XM_024452819.1:c.142G>C | XP_024308587.1:p.Ala48Pro | |
| XM_024452822.1:c.-595G>C | XP_024308590.1:n.-595G>C | |
| NM_000179.3:c.142G>C MANE Select | NP_000170.1:p.Ala48Pro | |
| NM_001281492.2:c.142G>C | NP_001268421.1:p.Ala48Pro | |
| NM_001281493.2:c.-595G>C | NP_001268422.1:n.-595G>C |