Linked Data
ClinVar Variation Id:
219577
dbSNP Id:
rs863224616
gnomAD v3:
2-47783369-G-A
gnomAD v4:
2-47783369-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47783369G>A , CM000664.2:g.47783369G>A | GRCh38 |
| NC_000002.11:g.48010508G>A , CM000664.1:g.48010508G>A | GRCh37 |
| NC_000002.10:g.47864012G>A | NCBI36 |
| NG_007111.1:g.5223G>A , LRG_219:g.5223G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700004.2:c.136G>A | ENSP00000514752.2:p.Gly46Arg | |
| ENST00000699999.1:n.220G>A | ||
| ENST00000700000.1:c.136G>A | ENSP00000514749.1:p.Gly46Arg | |
| ENST00000700001.1:n.208G>A | ||
| ENST00000700002.1:c.136G>A | ENSP00000514750.1:p.Gly46Arg | |
| ENST00000700003.1:c.136G>A | ENSP00000514751.1:p.Gly46Arg | |
| ENST00000234420.11:c.136G>A MANE Select | ENSP00000234420.5:p.Gly46Arg | |
| ENST00000540021.6:c.136G>A | ENSP00000446475.1:p.Gly46Arg | |
| ENST00000652107.1:c.-37-7558G>A | ENSP00000498629.1:n.-37-7558G>A | |
| ENST00000673637.1:c.-38+138G>A | ENSP00000501310.1:n.-38+138G>A | |
| ENST00000673922.1:n.225G>A | ||
| ENST00000234420.9:c.136G>A | ENSP00000234420.4:p.Gly46Arg | |
| ENST00000445503.5:c.136G>A | ENSP00000405294.1:p.Gly46Arg | |
| ENST00000456246.1:c.136G>A | ENSP00000410570.1:p.Gly46Arg | |
| ENST00000493177.1:n.200G>A | ||
| ENST00000540021.5:c.136G>A | ENSP00000446475.1:p.Gly46Arg | |
| ENST00000606499.1:c.-37-7558G>A | ENSP00000475605.1:n.-37-7558G>A | |
| ENST00000614496.4:c.-601G>A | ENSP00000477844.1:n.-601G>A | |
| ENST00000616033.4:c.134G>A | ENSP00000480261.1:p.Arg45Gln | |
| ENST00000622629.4:c.-2961G>A | ENSP00000482078.1:n.-2961G>A | |
| NM_000179.2:c.136G>A , LRG_219t1:c.136G>A | NP_000170.1:p.Gly46Arg | |
| NM_001281492.1:c.136G>A | NP_001268421.1:p.Gly46Arg | |
| NM_001281493.1:c.-601G>A | NP_001268422.1:n.-601G>A | |
| XM_011532800.1:c.-38+138G>A | XP_011531102.1:n.-38+138G>A | |
| XM_024452819.1:c.136G>A | XP_024308587.1:p.Gly46Arg | |
| XM_024452822.1:c.-601G>A | XP_024308590.1:n.-601G>A | |
| NM_000179.3:c.136G>A MANE Select | NP_000170.1:p.Gly46Arg | |
| NM_001281492.2:c.136G>A | NP_001268421.1:p.Gly46Arg | |
| NM_001281493.2:c.-601G>A | NP_001268422.1:n.-601G>A |